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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs671

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:111803962 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.006055 (1921/317236, ALFA)
A=0.008958 (2371/264690, TOPMED)
A=0.018882 (4582/242666, GnomAD_exome) (+ 17 more)
A=0.005957 (835/140164, GnomAD)
A=0.02129 (1878/88224, ExAC)
A=0.02717 (2138/78702, PAGE_STUDY)
A=0.19403 (5483/28258, 14KJPN)
A=0.19499 (3268/16760, 8.3KJPN)
A=0.0336 (215/6404, 1000G_30x)
A=0.0357 (179/5008, 1000G)
A=0.0010 (4/3854, ALSPAC)
A=0.0000 (0/3708, TWINSUK)
A=0.1726 (505/2926, KOREAN)
A=0.1556 (285/1832, Korea1K)
A=0.0054 (6/1112, Daghestan)
A=0.130 (99/762, HapMap)
A=0.209 (126/604, Vietnamese)
A=0.00 (0/38, Ancient Sardinia)
G=0.50 (11/22, SGDP_PRJ)
A=0.50 (11/22, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ALDH2 : Missense Variant
Publications
293 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 317358 G=0.993947 A=0.006053 0.989274 0.00138 0.009346 32
European Sub 273742 G=0.999927 A=0.000073 0.999861 0.000007 0.000132 32
African Sub 8526 G=0.9995 A=0.0005 0.999062 0.0 0.000938 0
African Others Sub 304 G=0.997 A=0.003 0.993421 0.0 0.006579 0
African American Sub 8222 G=0.9996 A=0.0004 0.99927 0.0 0.00073 0
Asian Sub 6806 G=0.8008 A=0.1992 0.646488 0.04496 0.308551 2
East Asian Sub 4902 G=0.7821 A=0.2179 0.616075 0.051816 0.332109 1
Other Asian Sub 1904 G=0.8487 A=0.1513 0.72479 0.027311 0.247899 1
Latin American 1 Sub 1276 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Latin American 2 Sub 1862 G=0.9995 A=0.0005 0.998926 0.0 0.001074 0
South Asian Sub 5218 G=0.9990 A=0.0010 0.998084 0.0 0.001916 0
Other Sub 19928 G=0.97315 A=0.02685 0.95283 0.006523 0.040646 32


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 317236 G=0.993945 A=0.006055
Allele Frequency Aggregator European Sub 273638 G=0.999927 A=0.000073
Allele Frequency Aggregator Other Sub 19924 G=0.97315 A=0.02685
Allele Frequency Aggregator African Sub 8512 G=0.9995 A=0.0005
Allele Frequency Aggregator Asian Sub 6806 G=0.8008 A=0.1992
Allele Frequency Aggregator South Asian Sub 5218 G=0.9990 A=0.0010
Allele Frequency Aggregator Latin American 2 Sub 1862 G=0.9995 A=0.0005
Allele Frequency Aggregator Latin American 1 Sub 1276 G=1.0000 A=0.0000
TopMed Global Study-wide 264690 G=0.991042 A=0.008958
gnomAD - Exomes Global Study-wide 242666 G=0.981118 A=0.018882
gnomAD - Exomes European Sub 130628 G=0.999969 A=0.000031
gnomAD - Exomes Asian Sub 47424 G=0.90450 A=0.09550
gnomAD - Exomes American Sub 33346 G=0.99961 A=0.00039
gnomAD - Exomes African Sub 15428 G=0.99981 A=0.00019
gnomAD - Exomes Ashkenazi Jewish Sub 9890 G=1.0000 A=0.0000
gnomAD - Exomes Other Sub 5950 G=0.9945 A=0.0055
gnomAD - Genomes Global Study-wide 140164 G=0.994043 A=0.005957
gnomAD - Genomes European Sub 75918 G=0.99996 A=0.00004
gnomAD - Genomes African Sub 42024 G=0.99983 A=0.00017
gnomAD - Genomes American Sub 13632 G=0.99905 A=0.00095
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3118 G=0.7453 A=0.2547
gnomAD - Genomes Other Sub 2150 G=0.9916 A=0.0084
ExAC Global Study-wide 88224 G=0.97871 A=0.02129
ExAC Europe Sub 52942 G=0.99994 A=0.00006
ExAC Asian Sub 19698 G=0.90542 A=0.09458
ExAC African Sub 7614 G=0.9999 A=0.0001
ExAC American Sub 7302 G=0.9989 A=0.0011
ExAC Other Sub 668 G=0.996 A=0.004
The PAGE Study Global Study-wide 78702 G=0.97283 A=0.02717
The PAGE Study AfricanAmerican Sub 32516 G=0.99975 A=0.00025
The PAGE Study Mexican Sub 10810 G=0.99917 A=0.00083
The PAGE Study Asian Sub 8318 G=0.7870 A=0.2130
The PAGE Study PuertoRican Sub 7918 G=0.9999 A=0.0001
The PAGE Study NativeHawaiian Sub 4534 G=0.9268 A=0.0732
The PAGE Study Cuban Sub 4230 G=0.9981 A=0.0019
The PAGE Study Dominican Sub 3828 G=1.0000 A=0.0000
The PAGE Study CentralAmerican Sub 2450 G=0.9996 A=0.0004
The PAGE Study SouthAmerican Sub 1982 G=0.9970 A=0.0030
The PAGE Study NativeAmerican Sub 1260 G=0.9992 A=0.0008
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
14KJPN JAPANESE Study-wide 28258 G=0.80597 A=0.19403
8.3KJPN JAPANESE Study-wide 16760 G=0.80501 A=0.19499
1000Genomes_30x Global Study-wide 6404 G=0.9664 A=0.0336
1000Genomes_30x African Sub 1786 G=0.9994 A=0.0006
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=0.8197 A=0.1803
1000Genomes_30x American Sub 980 G=0.997 A=0.003
1000Genomes Global Study-wide 5008 G=0.9643 A=0.0357
1000Genomes African Sub 1322 G=0.9985 A=0.0015
1000Genomes East Asian Sub 1008 G=0.8264 A=0.1736
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.997 A=0.003
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9990 A=0.0010
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=1.0000 A=0.0000
KOREAN population from KRGDB KOREAN Study-wide 2926 G=0.8274 A=0.1726
Korean Genome Project KOREAN Study-wide 1832 G=0.8444 A=0.1556
Genome-wide autozygosity in Daghestan Global Study-wide 1112 G=0.9946 A=0.0054
Genome-wide autozygosity in Daghestan Daghestan Sub 626 G=0.998 A=0.002
Genome-wide autozygosity in Daghestan Near_East Sub 138 G=0.993 A=0.007
Genome-wide autozygosity in Daghestan Europe Sub 108 G=1.000 A=0.000
Genome-wide autozygosity in Daghestan Central Asia Sub 106 G=0.962 A=0.038
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=1.00 A=0.00
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=1.00 A=0.00
HapMap Global Study-wide 762 G=0.870 A=0.130
HapMap American Sub 390 G=0.874 A=0.126
HapMap Asian Sub 254 G=0.803 A=0.197
HapMap African Sub 118 G=1.000 A=0.000
A Vietnamese Genetic Variation Database Global Study-wide 604 G=0.791 A=0.209
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 38 G=1.00 A=0.00
SGDP_PRJ Global Study-wide 22 G=0.50 A=0.50
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 12 NC_000012.12:g.111803962G>A
GRCh37.p13 chr 12 NC_000012.11:g.112241766G>A
ALDH2 RefSeqGene NG_012250.2:g.42076G>A
Gene: ALDH2, aldehyde dehydrogenase 2 family member (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ALDH2 transcript variant 1 NM_000690.4:c.1510G>A E [GAA] > K [AAA] Coding Sequence Variant
aldehyde dehydrogenase, mitochondrial isoform 1 precursor NP_000681.2:p.Glu504Lys E (Glu) > K (Lys) Missense Variant
ALDH2 transcript variant 2 NM_001204889.2:c.1369G>A E [GAA] > K [AAA] Coding Sequence Variant
aldehyde dehydrogenase, mitochondrial isoform 2 precursor NP_001191818.1:p.Glu457Lys E (Glu) > K (Lys) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 33429 )
ClinVar Accession Disease Names Clinical Significance
RCV000020058.7 Alcohol sensitivity, acute Drug-Response
RCV000020059.5 Alcohol dependence Protective
RCV000020060.5 Susceptibility to hangover Risk-Factor
RCV000020061.5 Sublingual nitroglycerin, susceptibility to poor response to Risk-Factor
RCV000020062.5 Esophageal cancer, alcohol-related, susceptibility to Risk-Factor
RCV001290000.2 AMED syndrome, digenic Pathogenic
RCV001787815.1 ethanol response - Toxicity Drug-Response
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A
GRCh38.p14 chr 12 NC_000012.12:g.111803962= NC_000012.12:g.111803962G>A
GRCh37.p13 chr 12 NC_000012.11:g.112241766= NC_000012.11:g.112241766G>A
ALDH2 RefSeqGene NG_012250.2:g.42076= NG_012250.2:g.42076G>A
ALDH2 transcript variant 1 NM_000690.4:c.1510= NM_000690.4:c.1510G>A
ALDH2 transcript variant 1 NM_000690.3:c.1510= NM_000690.3:c.1510G>A
ALDH2 transcript variant 2 NM_001204889.2:c.1369= NM_001204889.2:c.1369G>A
ALDH2 transcript variant 2 NM_001204889.1:c.1369= NM_001204889.1:c.1369G>A
aldehyde dehydrogenase, mitochondrial isoform 1 precursor NP_000681.2:p.Glu504= NP_000681.2:p.Glu504Lys
aldehyde dehydrogenase, mitochondrial isoform 2 precursor NP_001191818.1:p.Glu457= NP_001191818.1:p.Glu457Lys
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

132 SubSNP, 21 Frequency, 7 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WIAF ss676 Sep 19, 2000 (36)
2 SNP500CANCER ss5586234 Mar 31, 2003 (113)
3 RIKENSNPRC ss6312391 Feb 20, 2003 (111)
4 KIDDLAB ss6396276 Feb 20, 2003 (111)
5 IMCJ-GDT ss22886662 Apr 05, 2004 (121)
6 PERLEGEN ss23975064 Sep 20, 2004 (123)
7 PERLEGEN ss69120732 May 16, 2007 (127)
8 ILLUMINA ss74897004 Dec 06, 2007 (129)
9 KRIBB_YJKIM ss80753382 Dec 15, 2007 (130)
10 ILLUMINA ss154376947 Dec 01, 2009 (131)
11 ILLUMINA ss159552805 Dec 01, 2009 (131)
12 ILLUMINA ss160800710 Dec 01, 2009 (131)
13 ILLUMINA ss174079322 Jul 04, 2010 (132)
14 1000GENOMES ss242617061 Jul 15, 2010 (132)
15 OMICIA ss244239102 May 27, 2010 (132)
16 ILLUMINA ss244306137 Jul 04, 2010 (132)
17 GMI ss281549272 May 04, 2012 (137)
18 ILLUMINA ss410800718 Sep 17, 2011 (135)
19 PAGE_STUDY ss469414445 May 04, 2012 (137)
20 PAGE_STUDY ss469415096 May 04, 2012 (137)
21 ILLUMINA ss481326066 May 04, 2012 (137)
22 ILLUMINA ss481351311 May 04, 2012 (137)
23 ILLUMINA ss481756757 May 04, 2012 (137)
24 ILLUMINA ss482332407 Sep 08, 2015 (146)
25 ILLUMINA ss482974587 May 04, 2012 (137)
26 ILLUMINA ss485458172 May 04, 2012 (137)
27 1000GENOMES ss491051741 May 04, 2012 (137)
28 EXOME_CHIP ss491473855 May 04, 2012 (137)
29 ILLUMINA ss534381777 Sep 08, 2015 (146)
30 SSMP ss658991113 Apr 25, 2013 (138)
31 ILLUMINA ss779305026 Sep 08, 2015 (146)
32 ILLUMINA ss780692822 Sep 08, 2015 (146)
33 ILLUMINA ss781561293 Sep 08, 2015 (146)
34 ILLUMINA ss783174562 Sep 08, 2015 (146)
35 ILLUMINA ss783366651 Sep 08, 2015 (146)
36 ILLUMINA ss832434140 Sep 08, 2015 (146)
37 ILLUMINA ss833063977 Jul 13, 2019 (153)
38 ILLUMINA ss834772315 Sep 08, 2015 (146)
39 JMKIDD_LAB ss1067537773 Aug 21, 2014 (142)
40 JMKIDD_LAB ss1078774599 Aug 21, 2014 (142)
41 1000GENOMES ss1346661620 Aug 21, 2014 (142)
42 HAMMER_LAB ss1397645703 Sep 08, 2015 (146)
43 EVA_UK10K_ALSPAC ss1629458722 Apr 01, 2015 (144)
44 EVA_UK10K_TWINSUK ss1672452755 Apr 01, 2015 (144)
45 EVA_EXAC ss1691113697 Apr 01, 2015 (144)
46 EVA_SVP ss1713358466 Apr 01, 2015 (144)
47 ILLUMINA ss1752046726 Sep 08, 2015 (146)
48 ILLUMINA ss1752046727 Sep 08, 2015 (146)
49 ILLUMINA ss1917878964 Feb 12, 2016 (147)
50 ILLUMINA ss1946350057 Feb 12, 2016 (147)
51 ILLUMINA ss1946350058 Feb 12, 2016 (147)
52 ILLUMINA ss1959466682 Feb 12, 2016 (147)
53 ILLUMINA ss1959466683 Feb 12, 2016 (147)
54 AMU ss1966651573 Feb 12, 2016 (147)
55 ILLUMINA ss2095039621 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2193238241 Dec 20, 2016 (150)
57 SYSTEMSBIOZJU ss2628189375 Nov 08, 2017 (151)
58 ILLUMINA ss2633009295 Nov 08, 2017 (151)
59 ILLUMINA ss2633009296 Nov 08, 2017 (151)
60 ILLUMINA ss2633009297 Nov 08, 2017 (151)
61 ILLUMINA ss2633009298 Nov 08, 2017 (151)
62 ILLUMINA ss2635040720 Nov 08, 2017 (151)
63 GRF ss2700123345 Nov 08, 2017 (151)
64 ILLUMINA ss2710770967 Nov 08, 2017 (151)
65 GNOMAD ss2740141605 Nov 08, 2017 (151)
66 GNOMAD ss2748963066 Nov 08, 2017 (151)
67 GNOMAD ss2915247802 Nov 08, 2017 (151)
68 AFFY ss2984991288 Nov 08, 2017 (151)
69 AFFY ss2985627283 Nov 08, 2017 (151)
70 ILLUMINA ss3021466933 Nov 08, 2017 (151)
71 ILLUMINA ss3021466934 Nov 08, 2017 (151)
72 ILLUMINA ss3625634614 Oct 12, 2018 (152)
73 ILLUMINA ss3625634615 Oct 12, 2018 (152)
74 ILLUMINA ss3626970253 Oct 12, 2018 (152)
75 ILLUMINA ss3626970254 Oct 12, 2018 (152)
76 ILLUMINA ss3631015681 Oct 12, 2018 (152)
77 ILLUMINA ss3633034452 Oct 12, 2018 (152)
78 ILLUMINA ss3633735970 Oct 12, 2018 (152)
79 ILLUMINA ss3634524054 Oct 12, 2018 (152)
80 ILLUMINA ss3634524055 Oct 12, 2018 (152)
81 ILLUMINA ss3635426434 Oct 12, 2018 (152)
82 ILLUMINA ss3636209904 Oct 12, 2018 (152)
83 ILLUMINA ss3637177442 Oct 12, 2018 (152)
84 ILLUMINA ss3637987300 Oct 12, 2018 (152)
85 ILLUMINA ss3640231387 Oct 12, 2018 (152)
86 ILLUMINA ss3640231388 Oct 12, 2018 (152)
87 ILLUMINA ss3642978887 Oct 12, 2018 (152)
88 ILLUMINA ss3644603064 Oct 12, 2018 (152)
89 ILLUMINA ss3644603065 Oct 12, 2018 (152)
90 ILLUMINA ss3651849275 Oct 12, 2018 (152)
91 ILLUMINA ss3651849276 Oct 12, 2018 (152)
92 ILLUMINA ss3651849277 Oct 12, 2018 (152)
93 ILLUMINA ss3653761183 Oct 12, 2018 (152)
94 ILLUMINA ss3725358006 Jul 13, 2019 (153)
95 ILLUMINA ss3744105312 Jul 13, 2019 (153)
96 ILLUMINA ss3744401172 Jul 13, 2019 (153)
97 ILLUMINA ss3744824869 Jul 13, 2019 (153)
98 ILLUMINA ss3744824870 Jul 13, 2019 (153)
99 EVA ss3750971950 Jul 13, 2019 (153)
100 PAGE_CC ss3771717819 Jul 13, 2019 (153)
101 ILLUMINA ss3772324072 Jul 13, 2019 (153)
102 ILLUMINA ss3772324073 Jul 13, 2019 (153)
103 KHV_HUMAN_GENOMES ss3816303952 Jul 13, 2019 (153)
104 SGDP_PRJ ss3879124379 Apr 27, 2020 (154)
105 KRGDB ss3927868593 Apr 27, 2020 (154)
106 KOGIC ss3972739586 Apr 27, 2020 (154)
107 EVA ss3984673321 Apr 25, 2021 (155)
108 EVA ss3984673322 Apr 25, 2021 (155)
109 EVA ss3985615205 Apr 25, 2021 (155)
110 EVA ss3986586517 Apr 25, 2021 (155)
111 EVA ss4017611004 Apr 25, 2021 (155)
112 TOPMED ss4932981090 Apr 25, 2021 (155)
113 TOMMO_GENOMICS ss5208191351 Apr 25, 2021 (155)
114 EVA ss5236853447 Apr 25, 2021 (155)
115 EVA ss5236909302 Apr 25, 2021 (155)
116 EVA ss5237518643 Apr 25, 2021 (155)
117 1000G_HIGH_COVERAGE ss5292253743 Oct 16, 2022 (156)
118 TRAN_CS_UWATERLOO ss5314436755 Oct 16, 2022 (156)
119 EVA ss5315649603 Oct 16, 2022 (156)
120 EVA ss5408264946 Oct 16, 2022 (156)
121 HUGCELL_USP ss5486855046 Oct 16, 2022 (156)
122 1000G_HIGH_COVERAGE ss5590490158 Oct 16, 2022 (156)
123 SANFORD_IMAGENETICS ss5624312353 Oct 16, 2022 (156)
124 SANFORD_IMAGENETICS ss5653967699 Oct 16, 2022 (156)
125 TOMMO_GENOMICS ss5758523496 Oct 16, 2022 (156)
126 EVA ss5799403901 Oct 16, 2022 (156)
127 YY_MCH ss5813650036 Oct 16, 2022 (156)
128 EVA ss5847683875 Oct 16, 2022 (156)
129 EVA ss5906045247 Oct 16, 2022 (156)
130 EVA ss5945375168 Oct 16, 2022 (156)
131 EVA ss5979404231 Oct 16, 2022 (156)
132 SNP-ZJ ss5981325931 Oct 16, 2022 (156)
133 1000Genomes NC_000012.11 - 112241766 Oct 12, 2018 (152)
134 1000Genomes_30x NC_000012.12 - 111803962 Oct 16, 2022 (156)
135 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 112241766 Oct 12, 2018 (152)
136 Genome-wide autozygosity in Daghestan NC_000012.10 - 110726149 Apr 27, 2020 (154)
137 ExAC NC_000012.11 - 112241766 Oct 12, 2018 (152)
138 gnomAD - Genomes NC_000012.12 - 111803962 Apr 25, 2021 (155)
139 gnomAD - Exomes NC_000012.11 - 112241766 Jul 13, 2019 (153)
140 HapMap NC_000012.12 - 111803962 Apr 27, 2020 (154)
141 KOREAN population from KRGDB NC_000012.11 - 112241766 Apr 27, 2020 (154)
142 Korean Genome Project NC_000012.12 - 111803962 Apr 27, 2020 (154)
143 The PAGE Study NC_000012.12 - 111803962 Jul 13, 2019 (153)
144 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000012.11 - 112241766 Apr 25, 2021 (155)
145 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 222817 (NC_000012.11:112241765:G:A 125/792)
Row 222818 (NC_000012.11:112241765:G:A 125/792)

- Apr 25, 2021 (155)
146 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 222817 (NC_000012.11:112241765:G:A 125/792)
Row 222818 (NC_000012.11:112241765:G:A 125/792)

- Apr 25, 2021 (155)
147 SGDP_PRJ NC_000012.11 - 112241766 Apr 27, 2020 (154)
148 8.3KJPN NC_000012.11 - 112241766 Apr 25, 2021 (155)
149 14KJPN NC_000012.12 - 111803962 Oct 16, 2022 (156)
150 TopMed NC_000012.12 - 111803962 Apr 25, 2021 (155)
151 UK 10K study - Twins NC_000012.11 - 112241766 Oct 12, 2018 (152)
152 A Vietnamese Genetic Variation Database NC_000012.11 - 112241766 Jul 13, 2019 (153)
153 ALFA NC_000012.12 - 111803962 Apr 25, 2021 (155)
154 ClinVar RCV000020058.7 Oct 16, 2022 (156)
155 ClinVar RCV000020059.5 Apr 25, 2021 (155)
156 ClinVar RCV000020060.5 Apr 25, 2021 (155)
157 ClinVar RCV000020061.5 Apr 25, 2021 (155)
158 ClinVar RCV000020062.5 Apr 25, 2021 (155)
159 ClinVar RCV001290000.2 Apr 25, 2021 (155)
160 ClinVar RCV001787815.1 Oct 16, 2022 (156)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs2230021 Jan 04, 2002 (102)
rs4134524 Nov 14, 2002 (109)
rs4986830 Apr 07, 2003 (113)
rs60823674 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
116453, ss281549272, ss481326066, ss482974587, ss1397645703, ss1713358466, ss2635040720, ss3642978887 NC_000012.10:110726148:G:A NC_000012.12:111803961:G:A (self)
59473220, 33030752, 1428501, 9380044, 35045987, 841132, 31141359, 66160658, 33030752, 7328758, ss242617061, ss481351311, ss481756757, ss482332407, ss485458172, ss491051741, ss491473855, ss534381777, ss658991113, ss779305026, ss780692822, ss781561293, ss783174562, ss783366651, ss832434140, ss833063977, ss834772315, ss1067537773, ss1078774599, ss1346661620, ss1629458722, ss1672452755, ss1691113697, ss1752046726, ss1752046727, ss1917878964, ss1946350057, ss1946350058, ss1959466682, ss1959466683, ss1966651573, ss2095039621, ss2628189375, ss2633009295, ss2633009296, ss2633009297, ss2633009298, ss2700123345, ss2710770967, ss2740141605, ss2748963066, ss2915247802, ss2984991288, ss2985627283, ss3021466933, ss3021466934, ss3625634614, ss3625634615, ss3626970253, ss3626970254, ss3631015681, ss3633034452, ss3633735970, ss3634524054, ss3634524055, ss3635426434, ss3636209904, ss3637177442, ss3637987300, ss3640231387, ss3640231388, ss3644603064, ss3644603065, ss3651849275, ss3651849276, ss3651849277, ss3653761183, ss3744105312, ss3744401172, ss3744824869, ss3744824870, ss3750971950, ss3772324072, ss3772324073, ss3879124379, ss3927868593, ss3984673321, ss3984673322, ss3985615205, ss3986586517, ss4017611004, ss5208191351, ss5237518643, ss5315649603, ss5408264946, ss5624312353, ss5653967699, ss5799403901, ss5847683875, ss5945375168, ss5979404231 NC_000012.11:112241765:G:A NC_000012.12:111803961:G:A (self)
RCV000020058.7, RCV000020059.5, RCV000020060.5, RCV000020061.5, RCV000020062.5, RCV001290000.2, RCV001787815.1, 78016093, 419512545, 905641, 29117587, 939288, 92360600, 148526747, 604374811, ss244239102, ss2193238241, ss3725358006, ss3771717819, ss3816303952, ss3972739586, ss4932981090, ss5236853447, ss5236909302, ss5292253743, ss5314436755, ss5486855046, ss5590490158, ss5758523496, ss5813650036, ss5906045247, ss5981325931 NC_000012.12:111803961:G:A NC_000012.12:111803961:G:A (self)
ss676, ss5586234, ss6312391, ss6396276, ss22886662, ss23975064, ss69120732, ss74897004, ss80753382, ss154376947, ss159552805, ss160800710, ss174079322, ss244306137, ss410800718, ss469414445, ss469415096 NT_009775.17:2818295:G:A NC_000012.12:111803961:G:A (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

293 citations for rs671
PMID Title Author Year Journal
2987944 Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2. Hsu LC et al. 1985 Proceedings of the National Academy of Sciences of the United States of America
4065146 Mitochondrial aldehyde dehydrogenase from human liver. Primary structure, differences in relation to the cytosolic enzyme, and functional correlations. Hempel J et al. 1985 European journal of biochemistry
6582480 Molecular abnormality of an inactive aldehyde dehydrogenase variant commonly found in Orientals. Yoshida A et al. 1984 Proceedings of the National Academy of Sciences of the United States of America
7180842 Structural mutation in a major human aldehyde dehydrogenase gene results in loss of enzyme activity. Impraim C et al. 1982 American journal of human genetics
7593603 The aldehyde dehydrogenase ALDH2*2 allele exhibits dominance over ALDH2*1 in transduced HeLa cells. Xiao Q et al. 1995 The Journal of clinical investigation
8903321 The mutation in the mitochondrial aldehyde dehydrogenase (ALDH2) gene responsible for alcohol-induced flushing increases turnover of the enzyme tetramers in a dominant fashion. Xiao Q et al. 1996 The Journal of clinical investigation
10627091 Hangover symptoms in Asian Americans with variations in the aldehyde dehydrogenase (ALDH2) gene. Wall TL et al. 2000 Journal of studies on alcohol
10780266 Involvement of acetaldehyde for full protection against alcoholism by homozygosity of the variant allele of mitochondrial aldehyde dehydrogenase gene in Asians. Peng GS et al. 1999 Pharmacogenetics
15654505 Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-based Japanese samples. Liu Y et al. 2005 Journal of human genetics
16046871 Hangover susceptibility in relation to aldehyde dehydrogenase-2 genotype, alcohol flushing, and mean corpuscular volume in Japanese workers. Yokoyama M et al. 2005 Alcoholism, clinical and experimental research
16440063 Mitochondrial aldehyde dehydrogenase-2 (ALDH2) Glu504Lys polymorphism contributes to the variation in efficacy of sublingual nitroglycerin. Li Y et al. 2006 The Journal of clinical investigation
16595073 Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations. Savas S et al. 2006 Human genomics
17885622 Pharmacokinetic and pharmacodynamic basis for partial protection against alcoholism in Asians, heterozygous for the variant ALDH2*2 gene allele. Peng GS et al. 2007 Pharmacogenetics and genomics
18056758 Major genetic components underlying alcoholism in Korean population. Kim DJ et al. 2008 Human molecular genetics
18317873 Statistical analysis of the associations between polymorphisms within aldehyde dehydrogenase 2 (ALDH2), and quantitative and qualitative traits extracted from a large-scale database of Japanese single-nucleotide polymorphisms (SNPs). Nose J et al. 2008 Journal of human genetics
18331377 Association of ADH and ALDH genes with alcohol dependence in the Irish Affected Sib Pair Study of alcohol dependence (IASPSAD) sample. Kuo PH et al. 2008 Alcoholism, clinical and experimental research
18996923 Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis. Macgregor S et al. 2009 Human molecular genetics
19041386 Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review. Boes E et al. 2009 Experimental gerontology
19262484 Gene-environmental interaction regarding alcohol-metabolizing enzymes in the Japanese general population. Tsuchihashi-Makaya M et al. 2009 Hypertension research
19430479 Genome-wide association study of blood pressure and hypertension. Levy D et al. 2009 Nature genetics
19641380 Candidate gene polymorphisms for diabetes mellitus, cardiovascular disease and cancer are associated with longevity in Koreans. Park JW et al. 2009 Experimental & molecular medicine
19698717 Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk. Cui R et al. 2009 Gastroenterology
19706845 A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metabolizing enzymes are associated with colorectal cancer in a southwestern Chinese population. Yang H et al. 2009 Cancer epidemiology, biomarkers & prevention
19826048 Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran. Akbari MR et al. 2009 Cancer research
20010786 Alcohol dehydrogenase-2 and aldehyde dehydrogenase-2 genotypes, alcohol drinking and the risk for esophageal cancer in a Chinese population. Ding JH et al. 2010 Journal of human genetics
20093384 Impact of smoking on lung cancer risk is stronger in those with the homozygous aldehyde dehydrogenase 2 null allele in a Japanese population. Park JY et al. 2010 Carcinogenesis
20100738 Prevalence and persistence of chromosomal damage and susceptible genotypes of metabolic and DNA repair genes in Chinese vinyl chloride-exposed workers. Ji F et al. 2010 Carcinogenesis
20417517 The ALDH2 Glu504Lys polymorphism is associated with coronary artery disease in Han Chinese: Relation with endothelial ADMA levels. Guo YJ et al. 2010 Atherosclerosis
20505153 A compendium of genome-wide associations for cancer: critical synopsis and reappraisal. Ioannidis JP et al. 2010 Journal of the National Cancer Institute
20518787 Comparison between self-reported facial flushing after alcohol consumption and ALDH2 Glu504Lys polymorphism for risk of upper aerodigestive tract cancer in a Japanese population. Oze I et al. 2010 Cancer science
20585100 Genome-wide association studies of cancer. Stadler ZK et al. 2010 Journal of clinical oncology
20616999 Usefulness of Mendelian randomization in observational epidemiology. Bochud M et al. 2010 International journal of environmental research and public health
20729852 A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. Abnet CC et al. 2010 Nature genetics
20833657 Strong interaction between the effects of alcohol consumption and smoking on oesophageal squamous cell carcinoma among individuals with ADH1B and/or ALDH2 risk alleles. Tanaka F et al. 2010 Gut
20981351 Promoter Polymorphism of RGS2 Gene Is Associated with Change of Blood Pressure in Subjects with Antihypertensive Treatment: The Azelnidipine and Temocapril in Hypertensive Patients with Type 2 Diabetes Study. Sugimoto K et al. 2010 International journal of hypertension
21083667 Haplotype-based study of the association of alcohol-metabolizing genes with alcohol dependence in four independent populations. Liu J et al. 2011 Alcoholism, clinical and experimental research
21315679 Green tea consumption, inflammation and the risk of primary hepatocellular carcinoma in a Chinese population. Li Y et al. 2011 Cancer epidemiology
21338875 Genetic vulnerability and susceptibility to substance dependence. Bierut LJ et al. 2011 Neuron
21351086 Shortened telomeres in individuals with abuse in alcohol consumption. Pavanello S et al. 2011 International journal of cancer
21367945 Genome-wide association studies of alcohol intake--a promising cocktail? Agrawal A et al. 2011 The American journal of clinical nutrition
21372407 Confirmation of ALDH2 as a Major locus of drinking behavior and of its variants regulating multiple metabolic phenotypes in a Japanese population. Takeuchi F et al. 2011 Circulation journal
21437268 A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. McKay JD et al. 2011 PLoS genetics
21455501 Genetic variants on chromosome 8q24 and colorectal neoplasia risk: a case-control study in China and a meta-analysis of the published literature. Li M et al. 2011 PloS one
21467728 Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study. Wakai K et al. 2011 Journal of epidemiology
21572416 Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. Kato N et al. 2011 Nature genetics
21576033 ADH1B and ALDH2 polymorphisms and their associations with increased risk of squamous cell carcinoma of the head and neck in the Korean population. Ji YB et al. 2011 Oral oncology
21900886 Pharmacogenetics of naltrexone in asian americans: a randomized placebo-controlled laboratory study. Ray LA et al. 2012 Neuropsychopharmacology
21917409 Alcohol drinking, mean corpuscular volume of erythrocytes, and alcohol metabolic genotypes in drunk drivers. Pavanello S et al. 2012 Alcohol (Fayetteville, N.Y.)
21926110 Population-specific genetic associations with oesophageal squamous cell carcinoma in South Africa. Bye H et al. 2011 Carcinogenesis
21946912 Folate, alcohol, and aldehyde dehydrogenase 2 polymorphism and the risk of oral and pharyngeal cancer in Japanese. Matsuo K et al. 2012 European journal of cancer prevention
21971053 Genome-wide association study of coronary artery disease in the Japanese. Takeuchi F et al. 2012 European journal of human genetics
22004425 Genetic risk of hepatocellular carcinoma in patients with hepatitis C virus: a case control study. Tomoda T et al. 2012 Journal of gastroenterology and hepatology
22004471 Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster. Frank J et al. 2012 Addiction biology
22010049 Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations. Middelberg RP et al. 2012 Human molecular genetics
22102315 Strong protective effect of the aldehyde dehydrogenase gene (ALDH2) 504lys (*2) allele against alcoholism and alcohol-induced medical diseases in Asians. Li D et al. 2012 Human genetics
22171074 A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population. Tan A et al. 2012 Human molecular genetics
22301922 Measuring alcohol consumption for genomic meta-analyses of alcohol intake: opportunities and challenges. Agrawal A et al. 2012 The American journal of clinical nutrition
22507220 Epidemiologic differences in esophageal cancer between Asian and Western populations. Zhang HZ et al. 2012 Chinese journal of cancer
22508505 Aldehyde-stress resulting from Aldh2 mutation promotes osteoporosis due to impaired osteoblastogenesis. Hoshi H et al. 2012 Journal of bone and mineral research
22551939 Association of a functional single-nucleotide polymorphism in the ALDH2 gene with essential hypertension depends on drinking behavior in a Chinese Han population. Wang Y et al. 2013 Journal of human hypertension
22560290 A comparison of Val81Met and other polymorphisms of alcohol metabolising genes in patients and controls in Northern Spain. Celorrio D et al. 2012 Alcohol (Fayetteville, N.Y.)
22640768 The genetic basis of addictive disorders. Ducci F et al. 2012 The Psychiatric clinics of North America
22674868 Genetic variants at 4q23 and 12q24 are associated with head and neck cancer risk in China. Yuan H et al. 2013 Molecular carcinogenesis
22675424 ADH1C Ile350Val polymorphism and cancer risk: evidence from 35 case-control studies. Xue Y et al. 2012 PloS one
22806211 The genetics of addiction-a translational perspective. Agrawal A et al. 2012 Translational psychiatry
22839215 Common ALDH2 genetic variants predict development of hypertension in the SAPPHIRe prospective cohort: gene-environmental interaction with alcohol consumption. Chang YC et al. 2012 BMC cardiovascular disorders
22865593 Distinct genetic association at the PLCE1 locus with oesophageal squamous cell carcinoma in the South African population. Bye H et al. 2012 Carcinogenesis
22930414 Single nucleotide polymorphisms of ADH1B, ADH1C and ALDH2 genes and esophageal cancer: a population-based case-control study in China. Wu M et al. 2013 International journal of cancer
23072573 Multiplex allele-specific amplification from whole blood for detecting multiple polymorphisms simultaneously. Zhu J et al. 2013 Genetic testing and molecular biomarkers
23088731 Tag single nucleotide polymorphisms of alcohol-metabolizing enzymes modify the risk of upper aerodigestive tract cancers: HapMap database analysis. Chung CS et al. 2014 Diseases of the esophagus
23243119 Is aldehyde dehydrogenase 2 a credible genetic instrument for alcohol use in Mendelian randomization analysis in Southern Chinese men? Au Yeung SL et al. 2013 International journal of epidemiology
23364009 Common variants at 12q24 are associated with drinking behavior in Han Chinese. Yang X et al. 2013 The American journal of clinical nutrition
23430454 Genetic variants at 4q21, 4q23 and 12q24 are associated with esophageal squamous cell carcinoma risk in a Chinese population. Gao Y et al. 2013 Human genetics
23455379 The aldehyde dehydrogenase 2 (ALDH2) Glu504Lys polymorphism interacts with alcohol drinking in the risk of stomach cancer. Matsuo K et al. 2013 Carcinogenesis
23629646 Epidemiology of esophageal cancer in Japan and China. Lin Y et al. 2013 Journal of epidemiology
23685282 Association of genetic polymorphisms in ADH and ALDH2 with risk of coronary artery disease and myocardial infarction: a meta-analysis. Han H et al. 2013 Gene
23697560 ALDH2 rs671 Polymorphism and coronary heart disease risk among Asian populations: a meta-analysis and meta-regression. Wang Q et al. 2013 DNA and cell biology
23969552 Blood ethanol levels of nonabstinent Japanese alcoholic men in the morning after drinking and their ADH1B and ALDH2 genotypes. Yokoyama A et al. 2014 Alcohol and alcoholism (Oxford, Oxfordshire)
24037726 Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients. Hira A et al. 2013 Blood
24274136 Biobanking across the phenome - at the center of chronic disease research. Imboden M et al. 2013 BMC public health
24277619 ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample. Quillen EE et al. 2014 American journal of medical genetics. Part B, Neuropsychiatric genetics
24633362 ALDH2 and ADH1 genetic polymorphisms may contribute to the risk of gastric cancer: a meta-analysis. Wang HL et al. 2014 PloS one
24652602 Alcohol consumption and lifetime change in cognitive ability: a gene × environment interaction study. Ritchie SJ et al. 2014 Age (Dordrecht, Netherlands)
24861553 Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. Wen W et al. 2014 Human molecular genetics
24968322 Single nucleotide polymorphisms associated with colorectal cancer susceptibility and loss of heterozygosity in a Taiwanese population. Yang CY et al. 2014 PloS one
25045619 The Genetics, Neurogenetics and Pharmacogenetics of Addiction. Demers CH et al. 2014 Current behavioral neuroscience reports
25047496 Synergistic association between two alcohol metabolism relevant genes and coronary artery disease among Chinese hypertensive patients. Wang Y et al. 2014 PloS one
25133033 Epidemiological studies of esophageal cancer in the era of genome-wide association studies. Wang AH et al. 2014 World journal of gastrointestinal pathophysiology
25313998 The ALDH2 rs671 polymorphism affects post-stroke epilepsy susceptibility and plasma 4-HNE levels. Yang H et al. 2014 PloS one
25403981 Meta-analysis of association between ALDH2 rs671 polymorphism and essential hypertension in Asian populations. Zhang SY et al. 2015 Herz
25411394 Genetic alcohol sensitivity regulated by ALDH2 and ADH1B polymorphisms as indicator of mental disorders in Japanese employees. Yoshimasu K et al. 2015 Alcohol and alcoholism (Oxford, Oxfordshire)
25427900 Genetic-epidemiological evidence for the role of acetaldehyde in cancers related to alcohol drinking. Eriksson CJ et al. 2015 Advances in experimental medicine and biology
25543168 Genetic alcohol sensitivity regulated by ALDH2 and ADH1B polymorphisms is strongly associated with depression and anxiety in Japanese employees. Yoshimasu K et al. 2015 Drug and alcohol dependence
25573768 Effects of genetic variants of ADH1B and ALDH2 and social network on continued alcohol drinking among young adolescents in Taiwan. Ting TT et al. 2015 Drug and alcohol dependence
25636114 [Advance in research on the association of ALDH2 gene polymorphisms with cancer susceptibility in drinkers]. Chen C et al. 2015 Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
25680115 Association between Glu504Lys polymorphism of ALDH2 gene and cancer risk: a meta-analysis. Cai Q et al. 2015 PloS one
25803854 Genotyping on ALDH2: comparison of four different technologies. Zhang L et al. 2015 PloS one
26125444 Family history of cancer and the risk of squamous cell carcinoma of oesophagus: a case-control study in Kashmir, India. Bhat GA et al. 2015 British journal of cancer
26130061 Aldehyde dehydrogenase 2 genetic variations may increase susceptibility to Parkinson's disease in Han Chinese population. Zhang X et al. 2015 Neurobiology of aging
26174136 Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels. Setoh K et al. 2015 Nature communications
26284938 Alcohol Dehydrogenase-1B (rs1229984) and Aldehyde Dehydrogenase-2 (rs671) Genotypes Are Strong Determinants of the Serum Triglyceride and Cholesterol Levels of Japanese Alcoholic Men. Yokoyama A et al. 2015 PloS one
26356841 Alcohol Use and Gamma-Glutamyltransferase Using a Mendelian Randomization Design in the Guangzhou Biobank Cohort Study. Xu L et al. 2015 PloS one
26364564 Exploring causal associations of alcohol with cardiovascular and metabolic risk factors in a Chinese population using Mendelian randomization analysis. Taylor AE et al. 2015 Scientific reports
26542604 Alcohol Dehydrogenase-1B (rs1229984) and Aldehyde Dehydrogenase-2 (rs671) Genotypes and Alcoholic Ketosis Are Associated with the Serum Uric Acid Level in Japanese Alcoholic Men. Yokoyama A et al. 2016 Alcohol and alcoholism (Oxford, Oxfordshire)
26599441 Association of Genetically Determined Aldehyde Dehydrogenase 2 Activity with Diabetic Complications in Relation to Alcohol Consumption in Japanese Patients with Type 2 Diabetes Mellitus: The Fukuoka Diabetes Registry. Idewaki Y et al. 2015 PloS one
26687910 Alcohol intake and cardiovascular risk factors: A Mendelian randomisation study. Cho Y et al. 2015 Scientific reports
26770579 Genetic variants at 6p21, 10q23, 16q21 and 22q12 are associated with esophageal cancer risk in a Chinese Han population. Jia X et al. 2015 International journal of clinical and experimental medicine
26785701 Genome-wide association studies in East Asians identify new loci for waist-hip ratio and waist circumference. Wen W et al. 2016 Scientific reports
26825972 Relationships of alcohol dehydrogenase 1B (ADH1B) and aldehyde dehydrogenase 2 (ALDH2) genotypes with alcohol sensitivity, drinking behavior and problem drinking in Japanese older men. Hashimoto M et al. 2016 Environmental health and preventive medicine
26827895 Alcohol Drinking Mediates the Association between Polymorphisms of ADH1B and ALDH2 and Hepatitis B-Related Hepatocellular Carcinoma. Liu J et al. 2016 Cancer epidemiology, biomarkers & prevention
26833210 Evaluation of pleiotropic effects among common genetic loci identified for cardio-metabolic traits in a Korean population. Kim YK et al. 2016 Cardiovascular diabetology
26847647 Experimental Biology for the Identification of Causal Pathways in Atherosclerosis. Guo Y et al. 2016 Cardiovascular drugs and therapy
26848030 Effects of Obesity Related Genetic Variations on Visceral and Subcutaneous Fat Distribution in a Chinese Population. Wang T et al. 2016 Scientific reports
26891264 No Interaction with Alcohol Consumption, but Independent Effect of C12orf51 (HECTD4) on Type 2 Diabetes Mellitus in Korean Adults Aged 40-69 Years: The KoGES_Ansan and Ansung Study. Kim J et al. 2016 PloS one
26954674 Alteration of Antiviral Signalling by Single Nucleotide Polymorphisms (SNPs) of Mitochondrial Antiviral Signalling Protein (MAVS). Xing F et al. 2016 PloS one
26992901 Aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 1B (ADH1B) polymorphisms exacerbate bladder cancer risk associated with alcohol drinking: gene-environment interaction. Masaoka H et al. 2016 Carcinogenesis
26995653 Impacts of common variants in ALDH2 on coronary artery disease patients. Zhao J et al. 2016 Gene
27038040 ADH1B and ALDH2 are associated with metachronous SCC after endoscopic submucosal dissection of esophageal squamous cell carcinoma. Kagemoto K et al. 2016 Cancer medicine
27118149 Risk and predictors of hepatocellular carcinoma for chronic hepatitis B patients with newly developed cirrhosis. Chien J et al. 2016 Journal of gastroenterology and hepatology
27181629 Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus. Sakiyama M et al. 2016 Scientific reports
27191745 Aldehyde dehydrogenase 2 inhibits inflammatory response and regulates atherosclerotic plaque. Pan C et al. 2016 Oncotarget
27294413 Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016. Srivastava AK et al. 2016 Human genomics
27437086 Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences. Eom SY et al. 2016 Toxicological research
27453488 Aldehyde dehydrogenase 2 is associated with cognitive functions in patients with Parkinson's disease. Yu RL et al. 2016 Scientific reports
27588484 Gene-gene interactions in gastrointestinal cancer susceptibility. Kim J et al. 2016 Oncotarget
27827401 Alcohol consumption, genetic variants in the alcohol- and folate metabolic pathways and colorectal cancer risk: the JPHC Study. Svensson T et al. 2016 Scientific reports
27927211 Genetic variations of aldehyde dehydrogenase 2 and alcohol dehydrogenase 1B are associated with the etiology of atrial fibrillation in Japanese. Nakano Y et al. 2016 Journal of biomedical science
27986911 Aldehyde Dehydrogenase 2 Polymorphism Is a Predictor of Smoking Cessation. Masaoka H et al. 2017 Nicotine & tobacco research
27991683 Platelet Counts and Genetic Polymorphisms of Alcohol Dehydrogenase-1B and Aldehyde Dehydrogenase-2 in Japanese Alcoholic Men. Yokoyama A et al. 2017 Alcoholism, clinical and experimental research
28052001 Genetic polymorphisms in ALDH2 are associated with drug addiction in a Chinese Han population. Zhang C et al. 2017 Oncotarget
28158543 Supporting precision medicine by data mining across multi-disciplines: an integrative approach for generating comprehensive linkages between single nucleotide variants (SNVs) and drug-binding sites. Roy Choudhury A et al. 2017 Bioinformatics (Oxford, England)
28208752 Meta-Analysis on the Association of ALDH2 Polymorphisms and Type 2 Diabetic Mellitus, Diabetic Retinopathy. Li GY et al. 2017 International journal of environmental research and public health
28212515 Combination of ALDH2 and ADH1B polymorphisms is associated with smoking initiation: A large-scale cross-sectional study in a Japanese population. Masaoka H et al. 2017 Drug and alcohol dependence
28212632 Exome-wide association study identifies genetic polymorphisms of C12orf51, MYL2, and ALDH2 associated with blood lead levels in the general Korean population. Eom SY et al. 2017 Environmental health
28348376 A missense single nucleotide polymorphism in the ALDH2 gene, rs671, is associated with hip fracture. Takeshima K et al. 2017 Scientific reports
28371326 Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study. Zhu Y et al. 2017 Journal of cellular and molecular medicine
28443204 Association of genotypes of rs671 withinALDH2 with risk for gastric cardia adenocarcinoma in the Chinese Han population in high- and low-incidence areas. Zhang LQ et al. 2017 Cancer biology & medicine
28464297 Correlations of ALDH2 rs671 and C12orf30 rs4767364 polymorphisms with increased risk and prognosis of esophageal squamous cell carcinoma in the Kazak and Han populations in Xinjiang province. Liu P et al. 2018 Journal of clinical laboratory analysis
28471244 ALDH2*2 and peer drinking in East Asian college students. O'Shea T et al. 2017 The American journal of drug and alcohol abuse
28472173 Positive association between ALDH2 rs671 polymorphism and essential hypertension: A case-control study and meta-analysis. Wu Y et al. 2017 PloS one
28485404 Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study. Jorgenson E et al. 2017 Molecular psychiatry
28540979 Alcohol Consumption, Aldehyde Dehydrogenase 2 Gene Polymorphisms, and Cardiovascular Health in Korea. Shin MJ et al. 2017 Yonsei medical journal
28562329 Identification of polymorphisms in 12q24.1, ACAD10, and BRAP as novel genetic determinants of blood pressure in Japanese by exome-wide association studies. Yamada Y et al. 2017 Oncotarget
28566767 Independent effects of ADH1B and ALDH2 common dysfunctional variants on gout risk. Sakiyama M et al. 2017 Scientific reports
28594837 Genetic variants in ALDH1B1 and alcohol dependence risk in a British and Irish population: A bioinformatic and genetic study. Way MJ et al. 2017 PloS one
28613083 The ALDH2 gene rs671 polymorphism is not associated with essential hypertension. Li ZM et al. 2017 Clinical and experimental hypertension (New York, N.Y.
28728635 Gene-by-Environment Interactions on Alcohol Use Among Asian American College Freshmen. Luk JW et al. 2017 Journal of studies on alcohol and drugs
28778129 ALDH2 modulated changes in cytokine levels and cognitive function in bipolar disorder: A 12-week follow-up study. Lee SY et al. 2018 The Australian and New Zealand journal of psychiatry
28805974 Effect of single-nucleotide polymorphisms in ADH1B, ADH4, ADH1C, OPRM1, DRD2, BDNF, and ALDH2 genes on alcohol dependence in a Caucasian population. Katsarou MS et al. 2017 Pharmacology research & perspectives
28876462 The Causal Role of Alcohol Use in Adolescent Externalizing and Internalizing Problems: A Mendelian Randomization Study. Chao M et al. 2017 Alcoholism, clinical and experimental research
28894224 Associations between aldehyde dehydrogenase 2 (ALDH2) rs671 genetic polymorphisms, lifestyles and hypertension risk in Chinese Han people. Ma C et al. 2017 Scientific reports
29063269 Slow-metabolizing ADH1B and inactive heterozygous ALDH2 increase vulnerability to fatty liver in Japanese men with alcohol dependence. Yokoyama A et al. 2018 Journal of gastroenterology
29124443 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. Yasukochi Y et al. 2018 Molecular genetics and genomics
29166882 Polymorphisms in ADH1B and ALDH2 genes associated with the increased risk of gastric cancer in West Bengal, India. Ghosh S et al. 2017 BMC cancer
29176272 Modification of the Associations of Alcohol Intake With Serum Low-Density Lipoprotein Cholesterol and Triglycerides by ALDH2 and ADH1B Polymorphisms in Japanese Men. Sasakabe T et al. 2018 Journal of epidemiology
29223883 Analysis of mainland Japanese and Okinawan Japanese populations using the precision ID Ancestry Panel. Nakanishi H et al. 2018 Forensic science international. Genetics
29247577 Ovarian cancer risk, ALDH2 polymorphism and alcohol drinking: Asian data from the Ovarian Cancer Association Consortium. Ugai T et al. 2018 Cancer science
29254255 Association between ALDH2 rs671 G>A polymorphism and gastric cancer susceptibility in Eastern Asia. Jiang Y et al. 2017 Oncotarget
29286190 Impact of alcohol dehydrogenase-aldehyde dehydrogenase polymorphism on clinical outcome in patients with hypopharyngeal cancer. Avinçsal MO et al. 2018 Head & neck
29323248 Exploring the utility of alcohol flushing as an instrumental variable for alcohol intake in Koreans. Cho Y et al. 2018 Scientific reports
29386454 [Importance of an Aldehyde Dehydrogenase 2 Polymorphism in Preventive Medicine]. Matsumoto A et al. 2018 Nihon eiseigaku zasshi. Japanese journal of hygiene
29408531 The polymorphism rs671 at ALDH2 associated with serum uric acid levels in Chinese Han males: A genome-wide association study. Zhang D et al. 2018 Gene
29426835 Transcriptome analysis and prognosis of ALDH isoforms in human cancer. Chang PM et al. 2018 Scientific reports
29460428 Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population. Gelernter J et al. 2018 Alcoholism, clinical and experimental research
29616362 Association between ALDH2 and ADH1B polymorphisms, alcohol drinking and gastric cancer: a replication and mediation analysis. Ishioka K et al. 2018 Gastric cancer
29623947 Genetic Polymorphisms of the Mitochondrial Aldehyde Dehydrogenase ALDH2 Gene in a Large Ethnic Hakka Population in Southern China. Zhong Z et al. 2018 Medical science monitor
29707772 Association of low-activity ALDH2 and alcohol consumption with risk of esophageal cancer in Chinese adults: A population-based cohort study. Yu C et al. 2018 International journal of cancer
29722023 Discovery of 4 exonic and 1 intergenic novel susceptibility loci for leprosy. Wang Z et al. 2018 Clinical genetics
29742731 Associations of common variants at ALDH2 gene and the risk of stroke in patients with coronary artery diseases undergoing percutaneous coronary intervention. You L et al. 2018 Medicine
29765251 Genetic variants of ALDH2-rs671 and CYP2E1-rs2031920 contributed to risk of hepatocellular carcinoma susceptibility in a Chinese population. Ye X et al. 2018 Cancer management and research
29779728 Association Between Aldehyde Dehydrogenase 2 Glu504Lys Polymorphism and Alcoholic Liver Disease. Chang B et al. 2018 The American journal of the medical sciences
29942042 A decade in psychiatric GWAS research. Horwitz T et al. 2019 Molecular psychiatry
29953918 Identification of three novel loci of ALDH2 Gene for Serum Folate levels in a Male Chinese Population by Genome-Wide Association Study. Deng C et al. 2018 Gene
29960587 Interactions between ALDH2 rs671 polymorphism and lifestyle behaviors on coronary artery disease risk in a Chinese Han population with dyslipidemia: A guide to targeted heart health management. Huang L et al. 2018 Environmental health and preventive medicine
30123371 Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to Gout. Zhu W et al. 2018 The open rheumatology journal
30166580 Genetic polymorphisms of ALDH2 are associated with lumbar disc herniation in a Chinese Han population. Dong Q et al. 2018 Scientific reports
30173282 Construction of a risk model for the development of metachronous squamous cell carcinoma after endoscopic resection of esopahageal squamous cell carcinoma. Urabe Y et al. 2019 Esophagus
30182779 Genetic susceptibility to cerebrovascular disease: A systematic review. Griessenauer CJ et al. 2018 Journal of cerebral blood flow and metabolism
30202044 Gastric cancer may share genetic predisposition with esophageal squamous cell carcinoma in Chinese populations. Yao L et al. 2018 Journal of human genetics
30326548 Alcohol consumption and diabetes risk in a Chinese population: a Mendelian randomization analysis. Peng M et al. 2019 Addiction (Abingdon, England)
30334266 ALDH2 Polymorphism rs671, but Not ADH1B Polymorphism rs1229984, Increases Risk for Hypo-HDL-Cholesterolemia in a/a Carriers Compared to the G/G Carriers. Imatoh T et al. 2018 Lipids
30374405 eLD: entropy-based linkage disequilibrium index between multiallelic sites. Okada Y et al. 2018 Human genome variation
30375985 Acetaldehyde dehydrogenase 2 interactions with LDLR and AMPK regulate foam cell formation. Zhong S et al. 2019 The Journal of clinical investigation
30399428 Genome-wide association and gene-environment interaction study identifies variants in ALDH2 associated with serum ferritin in a Chinese population. Tao Y et al. 2019 Gene
30629674 Endoscopic screening using esophageal iodine staining and genotypes of ADH1B and ALDH2 in Japanese alcohol-dependent women. Yokoyama A et al. 2019 PloS one
30639619 Alcohol Intake Interacts with Functional Genetic Polymorphisms of Aldehyde Dehydrogenase (ALDH2) and Alcohol Dehydrogenase (ADH) to Increase Esophageal Squamous Cell Cancer Risk. Suo C et al. 2019 Journal of thoracic oncology
30718733 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits. Moon S et al. 2019 Scientific reports
30753320 Association of genetic variants in CHEK2 with oesophageal squamous cell carcinoma in the South African Black population. Chen WC et al. 2019 Carcinogenesis
30793520 Cumulative evidence for association between genetic polymorphisms and esophageal cancer susceptibility: A review with evidence from meta-analysis and genome-wide association studies. Tian J et al. 2019 Cancer medicine
30810208 Genome-wide association meta-analysis and Mendelian randomization analysis confirm the influence of ALDH2 on sleep durationin the Japanese population. Nishiyama T et al. 2019 Sleep
30842089 Alcohol-metabolizing Enzymes' Gene Polymorphisms and Susceptibility to Multiple Head and Neck Cancers. Chien HT et al. 2019 Cancer prevention research (Philadelphia, Pa.)
30846829 ALDH2 rs671 polymorphism and the risk of heart failure with preserved ejection fraction (HFpEF) in patients with cardiovascular diseases. Xia CL et al. 2020 Journal of human hypertension
30921184 Effect of ALDH2 polymorphism on cancer risk in Asians: A meta-analysis. Zuo W et al. 2019 Medicine
30955975 Conventional and genetic evidence on alcohol and vascular disease aetiology: a prospective study of 500 000 men and women in China. Millwood IY et al. 2019 Lancet (London, England)
30984100 Association Between Aldehyde dehydrogenase-2 Polymorphisms and Risk of Alzheimer's Disease and Parkinson's Disease: A Meta-Analysis Based on 5,315 Individuals. Chen J et al. 2019 Frontiers in neurology
31066241 The functional ALDH2 polymorphism is associated with breast cancer risk: A pooled analysis from the Breast Cancer Association Consortium. Ugai T et al. 2019 Molecular genetics & genomic medicine
31114233 Leptin rs7799039 (G2548A) polymorphism is associated with cancer risk: a meta-analysis involving 25,799 subjects. Tang W et al. 2019 OncoTargets and therapy
31227586 Relationship between alcohol use, blood pressure and hypertension: an association study and a Mendelian randomisation study. Zhao PP et al. 2019 Journal of epidemiology and community health
31289104 Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout. Kawamura Y et al. 2019 Annals of the rheumatic diseases
31320941 Identification of the 12q24 locus associated with fish intake frequency by genome-wide meta-analysis in Japanese populations. Igarashi M et al. 2019 Genes & nutrition
31338989 Causal effect of alcohol consumption on hyperuricemia using a Mendelian randomization design. Jee YH et al. 2019 International journal of rheumatic diseases
31361523 Acetaldehyde Dehydrogenase 2 rs671 Polymorphism Affects Hypertension Susceptibility and Lipid Profiles in a Chinese Population. Han S et al. 2019 DNA and cell biology
31366848 [Development of Novel Genotyping Protocol and Its Application for Genotyping of Alcohol Metabolism-related Genes]. Imai M et al. 2019 Yakugaku zasshi
31368098 The Bidirectional Effect of Defective ALDH2 Polymorphism and Disease Prevention. Matsumoto A et al. 2019 Advances in experimental medicine and biology
31428123 Systematic Review of Genetic Factors in the Etiology of Esophageal Squamous Cell Carcinoma in African Populations. Simba H et al. 2019 Frontiers in genetics
31516756 Genetic polymorphisms and gastric cancer risk: a comprehensive review synopsis from meta-analysis and genome-wide association studies. Tian J et al. 2019 Cancer biology & medicine
31558841 Functional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population. Sakaue S et al. 2020 European journal of human genetics
31591379 Genome-wide association study of alcohol dependence in male Han Chinese and cross-ethnic polygenic risk score comparison. Sun Y et al. 2019 Translational psychiatry
31737110 The Defective Allele of Aldehyde Dehydrogenase 2 Gene is Associated with Favorable Postoperative Prognosis in Hepatocellular Carcinoma. Huang PH et al. 2019 Journal of Cancer
31762247 [Microanalysis of Acetaldehyde Dehydrogenase 2 Genotype Based on SNaPShot-FCA]. Zeng SS et al. 2019 Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition
31831791 Effect of ALDH2 on Sleep Disturbances in Patients with Parkinson's Disease. Lin CY et al. 2019 Scientific reports
31842750 A phenomics-based approach for the detection and interpretation of shared genetic influences on 29 biochemical indices in southern Chinese men. Hu Y et al. 2019 BMC genomics
31845443 Associations among liver disease, serum lipid profile, body mass index, ketonuria, meal skipping, and the alcohol dehydrogenase-1B and aldehyde dehydrogenase-2 genotypes in Japanese men with alcohol dependence. Yokoyama A et al. 2020 Hepatology research
31911793 Risks of incident heart failure with preserved ejection fraction in Chinese patients hospitalized for cardiovascular diseases. Zhang JX et al. 2019 Journal of geriatric cardiology
31987047 Relationship of ALDH2 rs671 and CYP2E1 rs2031920 with hepatocellular carcinoma susceptibility in East Asians: a meta-analysis. Chen J et al. 2020 World journal of surgical oncology
32005715 Across-Site Differences in the Mechanism of Alcohol-Induced Digestive Tract Carcinogenesis: An Evaluation by Mediation Analysis. Koyanagi YN et al. 2020 Cancer research
32084087 Impacts of interactions between ADH1B and ALDH2 genotypes on alcohol flushing, alcohol reeking on the day after drinking, and age distribution in Japanese alcohol-dependent men. Yokoyama A et al. 2020 Pharmacogenetics and genomics
32107439 Association of alcohol dehydrogenase and aldehyde dehydrogenase Polymorphism with Spontaneous Deep Intracerebral Haemorrhage in the Taiwan population. Huang YH et al. 2020 Scientific reports
32141245 Effect Modification of Acetaldehyde Dehydrogenase 2 rs671 Polymorphism on the Association between Alcohol Intake and Blood Pressure: the Dong-gu Study. Kim HY et al. 2020 Journal of Korean medical science
32223781 Folate, alcohol, ADH1B and ALDH2 and colorectal cancer risk. Seol JE et al. 2020 Public health nutrition
32300124 Role of aldehyde dehydrogenases, alcohol dehydrogenase 1B genotype, alcohol consumption, and their combination in breast cancer in East-Asian women. Park B et al. 2020 Scientific reports
32309376 ALDH2 rs671 polymorphisms and the risk of cerebral microbleeds in Chinese elderly: the Taizhou Imaging Study. Zhu Z et al. 2020 Annals of translational medicine
32350201 ALDH2 Gene rs671 Polymorphism May Decrease the Risk of Essential Hypertension. Mei XF et al. 2020 International heart journal
32356421 Association between ALDH2 Polymorphism and Gastric Cancer Risk in a Korean Population. Choi CK et al. 2020 Journal of Korean medical science
32446379 Astaxanthin improves osteopenia caused by aldehyde-stress resulting from Aldh2 mutation due to impaired osteoblastogenesis. Hoshi H et al. 2020 Biochemical and biophysical research communications
32481290 Association between ALDH2 rs671 polymorphism and risk of ischemic stroke: A protocol for systematic review and meta analysis. Jiang Y et al. 2020 Medicine
32514006 Polygenic analysis of the effect of common and low-frequency genetic variants on serum uric acid levels in Korean individuals. Cho SK et al. 2020 Scientific reports
32572145 Strong association between the 12q24 locus and sweet taste preference in the Japanese population revealed by genome-wide meta-analysis. Kawafune K et al. 2020 Journal of human genetics
32760424 Association Between ALDH-2 rs671 and Essential Hypertension Risk or Blood Pressure Levels: A Systematic Review and Meta-Analysis. Zheng Y et al. 2020 Frontiers in genetics
32802164 A multinational review: Oesophageal cancer in low to middle-income countries. Hull R et al. 2020 Oncology letters
32896553 A critical assessment of the potential of pharmacological modulation of aldehyde dehydrogenases to treat the diseases of bone loss. Mittal M et al. 2020 European journal of pharmacology
33004991 ALDH2 genotype modulates the association between alcohol consumption and AST/ALT ratio among middle-aged Japanese men: a genome-wide G × E interaction analysis. Sutoh Y et al. 2020 Scientific reports
33060820 Alcohol consumption is associated with glaucoma severity regardless of ALDH2 polymorphism. Han YS et al. 2020 Scientific reports
33093602 CUX2, BRAP and ALDH2 are associated with metabolic traits in people with excessive alcohol consumption. Chen IC et al. 2020 Scientific reports
33170161 Genetic test for the prescription of diets in support of physical activity. Naureen Z et al. 2020 Acta bio-medica
33170513 Association Between ALDH2 Polymorphism and Gastric Cancer Risk in Terms of Alcohol Consumption: A Meta-Analysis. Joo Kang S et al. 2021 Alcoholism, clinical and experimental research
33188956 ALDH2 mutation promotes skeletal muscle atrophy in mice via accumulation of oxidative stress. Kobayashi H et al. 2021 Bone
33193720 Alcohol Use and Depression: A Mendelian Randomization Study From China. Zhu C et al. 2020 Frontiers in genetics
33249700 Risk factors for esophageal iodine-unstained lesions and changing trends among Japanese alcohol-dependent men (2003-2018). Yokoyama A et al. 2021 Cancer science
33276716 The effect of ALDH2 rs671 gene mutation on clustering of cardiovascular risk factors in a big data study of Chinese population: associations differ between the sexes. Wang D et al. 2020 BMC cardiovascular disorders
33283290 Association Between the Aldehyde Dehydrogenase-2 rs671 G>A Polymorphism and Head and Neck Cancer Susceptibility: A Meta-Analysis in East Asians. Du XY et al. 2021 Alcoholism, clinical and experimental research
33421985 Association between ALDH2 and ADH1B Polymorphisms and the Risk for Colorectal Cancer in Koreans. Choi CK et al. 2021 Cancer research and treatment
33512438 Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency. Mu A et al. 2021 Blood
33551739 Association Study of Alcohol Dehydrogenase and Aldehyde Dehydrogenase Polymorphism With Alzheimer Disease in the Taiwanese Population. Wu YY et al. 2021 Frontiers in neuroscience
33552962 Risk Factors and Genetic Biomarkers of Multiple Primary Cancers in Esophageal Cancer Patients. Yang PW et al. 2020 Frontiers in oncology
33592568 Generation of induced pluripotent stem cells FIRDIi001-A from a Taiwanese subject carrying ALDH2 pE487K mutation. Lu HE et al. 2021 Stem cell research
33651448 Prospective study: Aldehyde dehydrogenase 2 gene is associated with cardio-cerebrovascular complications in type 2 diabetes patients. He Q et al. 2021 Journal of diabetes investigation
33740503 Acetaldehyde Dehydrogenase 2 regulates HMG-CoA reductase stability and cholesterol synthesis in the liver. Zhong S et al. 2021 Redox biology
33750341 Association between ALDH2 polymorphism and esophageal cancer risk in South Koreans: a case-control study. Choi CK et al. 2021 BMC cancer
33808974 Interactions of COMT and ALDH2 Genetic Polymorphisms on Symptoms of Parkinson's Disease. Yu RL et al. 2021 Brain sciences
33858492 Risk of gout among Taiwanese adults with ALDH-2 rs671 polymorphism according to BMI and alcohol intake. Liu YR et al. 2021 Arthritis research & therapy
33893496 Investigation of Association of Rare, Functional Genetic Variants With Heavy Drinking and Problem Drinking in Exome Sequenced UK Biobank Participants. Curtis D et al. 2022 Alcohol and alcoholism (Oxford, Oxfordshire)
33974068 ALDH2 rs671 Is Associated With Elevated FPG, Reduced Glucose Clearance and Hepatic Insulin Resistance in Japanese Men. Takeno K et al. 2021 The Journal of clinical endocrinology and metabolism
34022841 ALDH2 polymorphism rs671 is a predictor of PD-1/PD-L1 inhibitor efficacy against thoracic malignancies. Matsumoto A et al. 2021 BMC cancer
34033144 Association between aldehyde dehydrogenase 2 gene rs671 G>A polymorphism and alcoholic liver cirrhosis in southern Chinese Hakka population. Zeng D et al. 2021 Journal of clinical laboratory analysis
34051793 Association of ADH1B polymorphism and alcohol consumption with increased risk of intracerebral hemorrhagic stroke. Lin CH et al. 2021 Journal of translational medicine
34073884 ALDH2 p.E504K Variation and Sex Are Major Factors Associated with Current and Quitting Alcohol Drinking in Japanese Oldest Old. Sasaki T et al. 2021 Genes
34118567 Generation of IBMS-iPSC-021, -022, -023 human induced pluripotent stem cells (IBMSi016-A, IBMSi017-A, and IBMSi018-A) derived from patients with the ALDH2 rs671 polymorphism. Tsai MH et al. 2021 Stem cell research
34211048 Acetaldehyde exposure underlies functional defects in monocytes induced by excessive alcohol consumption. Shiba S et al. 2021 Scientific reports
34221859 The role of ALDH2 in tumorigenesis and tumor progression: Targeting ALDH2 as a potential cancer treatment. Zhang H et al. 2021 Acta pharmaceutica Sinica. B
34247200 Associations between KCNQ1 and ITIH4 gene polymorphisms and infant weight gain in early life. Zhang Y et al. 2022 Pediatric research
34260573 Interaction between ALDH2 rs671 and life habits affects the risk of hypertension in Koreans: A STROBE observational study. Kim SS et al. 2021 Medicine
34268385 Analysis of gender-specific associations between aldehyde dehydrogenase 2 (ALDH2) rs671 genetic polymorphisms and serum uric acid levels in Han Chinese. Wu J et al. 2021 Annals of translational medicine
34310648 Combinations of alcohol-induced flushing with genetic polymorphisms of alcohol and aldehyde dehydrogenases and the risk of alcohol dependence in Japanese men and women. Yokoyama A et al. 2021 PloS one
34342185 Association between Alcohol Consumption and Serum Cortisol Levels: a Mendelian Randomization Study. Yang JH et al. 2021 Journal of Korean medical science
34457340 Relationship between rice farming and polygenic scores potentially linked to agriculture in China. Zhu C et al. 2021 Royal Society open science
34481002 ALDH2, ADCY3 and BCMO1 polymorphisms and lifestyle-induced traits are jointly associated with CAD risk in Chinese Han people. Ye CY et al. 2022 Gene
34572589 The Aldehyde Dehydrogenase ALDH2*2 Allele, Associated with Alcohol Drinking Behavior, Dates Back to Prehistoric Times. Lin CL et al. 2021 Biomolecules
34584183 Genetic landscape of 125 pharmacogenes in Chinese from the Chinese Millionome Database. Qi G et al. 2021 Scientific reports
34593890 Cortical thickness is differently associated with ALDH2 rs671 polymorphism according to level of amyloid deposition. Cho YH et al. 2021 Scientific reports
34626249 Association between alcohol and bone mineral density in a Mendelian randomization study: the Dong-gu study. Choi CK et al. 2022 Journal of bone and mineral metabolism
34680127 Exploring the Role of Alcohol Metabolizing Genotypes in a 12-Week Clinical Trial of Naltrexone for Alcohol Use Disorder. Castaldelli-Maia JM et al. 2021 Biomolecules
34680942 Associations between ALDH Genetic Variants, Alcohol Consumption, and the Risk of Nasopharyngeal Carcinoma in an East Asian Population. Liao WL et al. 2021 Genes
34827557 Variant Aldehyde Dehydrogenase 2 (ALDH2*2) as a Risk Factor for Mechanical LA Substrate Formation and Atrial Fibrillation with Modest Alcohol Consumption in Ethnic Asians. Hung CL et al. 2021 Biomolecules
35102643 New insights into the genetic contribution of ALDH2 rs671 in pancreatic carcinogenesis: Evaluation by mediation analysis. Koyanagi YN et al. 2022 Cancer science
35129315 Causal Association Between Alcohol Consumption and Atrial Fibrillation: A Mendelian Randomization Study. Yang JH et al. 2022 Korean circulation journal
35132194 A genome-wide association study on adherence to low-carbohydrate diets in Japanese. Nakamura Y et al. 2022 European journal of clinical nutrition
35249931 Additive Effects of Drinking Habits and a Susceptible Genetic Polymorphism on Cholesterol Efflux Capacity. Matsumoto E et al. 2023 Journal of atherosclerosis and thrombosis
35309545 The ALDH2 rs671 polymorphism is associated with athletic status and muscle strength in a Japanese population. Kikuchi N et al. 2022 Biology of sport
35318866 Aldehyde dehydrogenase 2 deficiency promotes skeletal muscle atrophy in aged mice. Kasai A et al. 2022 American journal of physiology. Regulatory, integrative and comparative physiology
35346052 Association of ALDH2 rs671 and MTHFR rs1801133 polymorphisms with hypertension among Hakka people in Southern China. Wu H et al. 2022 BMC cardiovascular disorders
35368830 Associations of Alcohol Dehydrogenase and Aldehyde Dehydrogenase Polymorphism With Cognitive Impairment Among the Oldest-Old in China. Jin X et al. 2021 Frontiers in aging neuroscience
35393951 Aldehyde dehydrogenase 2 and PARP1 interaction modulates hepatic HDL biogenesis by LXRα-mediated ABCA1 expression. Li L et al. 2022 JCI insight
35450031 ALDH2 Polymorphism rs671 *1/*2 Genotype is a Risk Factor for the Development of Alcoholic Liver Cirrhosis in Hakka Alcoholics. Chen Y et al. 2022 International journal of general medicine
35501403 Genome-wide association and Mendelian randomization study of blood copper levels and 213 deep phenotypes in humans. Yang W et al. 2022 Communications biology
35568135 Aldehyde dehydrogenase 2 and arrhythmogenesis. Jin J et al. 2022 Heart rhythm
35670037 Impacts of ADH1B rs1229984 and ALDH2 rs671 polymorphisms on risks of alcohol-related disorder and cancer. Chang TG et al. 2023 Cancer medicine
35687413 Causal associations of alcohol consumption with cardiovascular diseases and all-cause mortality among Chinese males. Hu C et al. 2022 The American journal of clinical nutrition
35877121 Association of Heavy Alcohol Intake and ALDH2 rs671 Polymorphism With Hepatocellular Carcinoma and Mortality in Patients With Hepatitis B Virus-Related Cirrhosis. Tsai MC et al. 2022 JAMA network open
35891198 Variant Allele of ALDH2, rs671, Associates with Attenuated Post-Vaccination Response in Anti-SARS-CoV-2 Spike Protein IgG: A Prospective Study in the Japanese General Population. Matsumoto A et al. 2022 Vaccines
35907253 Alcohol consumption and subclinical and clinical coronary heart disease: a Mendelian randomization analysis. Hisamatsu T et al. 2022 European journal of preventive cardiology
36068255 The effect of the association between CETP variant type and alcohol consumption on cholesterol level differs according to the ALDH2 variant type. Yoo MG et al. 2022 Scientific reports
36079852 Alcohol Consumption and Mild Cognitive Impairment: A Mendelian Randomization Study from Rural China. Cui Y et al. 2022 Nutrients
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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