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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.

rs1065852

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:42130692 (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 / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.191960 (50810/264690, TOPMED)
A=0.208750 (50363/241260, GnomAD_exome)
A=0.186748 (25890/138636, GnomAD) (+ 18 more)
A=0.24669 (23642/95838, ExAC)
A=0.21154 (10287/48628, ALFA)
A=0.39054 (11000/28166, 14KJPN)
A=0.39654 (6627/16712, 8.3KJPN)
A=0.2289 (1466/6404, 1000G_30x)
A=0.2380 (1192/5008, 1000G)
G=0.4942 (1445/2924, KOREAN)
A=0.232 (232/998, GoNL)
A=0.195 (117/600, NorthernSweden)
A=0.163 (87/534, MGP)
G=0.478 (255/534, PRJEB37584)
A=0.302 (152/504, PharmGKB)
A=0.110 (30/272, FINRISK)
A=0.164 (35/214, Qatari)
G=0.349 (74/212, Vietnamese)
G=0.372 (67/180, SGDP_PRJ)
G=0.50 (7/14, Siberian)
A=0.50 (7/14, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CYP2D6 : Missense Variant
LOC102723722 : Intron Variant
Publications
93 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 48628 G=0.78846 A=0.21154 0.63338 0.05647 0.310151 32
European Sub 36686 G=0.78161 A=0.21839 0.6216 0.058387 0.320013 32
African Sub 3478 G=0.8637 A=0.1363 0.759057 0.031627 0.209316 12
African Others Sub 116 G=0.948 A=0.052 0.931034 0.034483 0.034483 14
African American Sub 3362 G=0.8608 A=0.1392 0.753123 0.031529 0.215348 10
Asian Sub 164 G=0.421 A=0.579 0.207317 0.365854 0.426829 1
East Asian Sub 110 G=0.427 A=0.573 0.236364 0.381818 0.381818 2
Other Asian Sub 54 G=0.41 A=0.59 0.148148 0.333333 0.518519 0
Latin American 1 Sub 500 G=0.832 A=0.168 0.704 0.04 0.256 1
Latin American 2 Sub 628 G=0.876 A=0.124 0.770701 0.019108 0.210191 0
South Asian Sub 94 G=0.80 A=0.20 0.638298 0.042553 0.319149 0
Other Sub 7078 G=0.7845 A=0.2155 0.625318 0.056231 0.318452 7


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
TopMed Global Study-wide 264690 G=0.808040 A=0.191960
gnomAD - Exomes Global Study-wide 241260 G=0.791250 A=0.208750
gnomAD - Exomes European Sub 128880 G=0.800054 A=0.199946
gnomAD - Exomes Asian Sub 47592 G=0.68480 A=0.31520
gnomAD - Exomes American Sub 33760 G=0.87722 A=0.12278
gnomAD - Exomes African Sub 15156 G=0.87728 A=0.12272
gnomAD - Exomes Ashkenazi Jewish Sub 9944 G=0.7576 A=0.2424
gnomAD - Exomes Other Sub 5928 G=0.8013 A=0.1987
gnomAD - Genomes Global Study-wide 138636 G=0.813252 A=0.186748
gnomAD - Genomes European Sub 75460 G=0.79148 A=0.20852
gnomAD - Genomes African Sub 41134 G=0.87526 A=0.12474
gnomAD - Genomes American Sub 13526 G=0.84689 A=0.15311
gnomAD - Genomes Ashkenazi Jewish Sub 3314 G=0.7580 A=0.2420
gnomAD - Genomes East Asian Sub 3074 G=0.4353 A=0.5647
gnomAD - Genomes Other Sub 2128 G=0.8050 A=0.1950
ExAC Global Study-wide 95838 G=0.75331 A=0.24669
ExAC Europe Sub 57680 G=0.75775 A=0.24225
ExAC Asian Sub 21412 G=0.66864 A=0.33136
ExAC American Sub 8216 G=0.8487 A=0.1513
ExAC African Sub 7800 G=0.8487 A=0.1513
ExAC Other Sub 730 G=0.793 A=0.207
Allele Frequency Aggregator Total Global 48628 G=0.78846 A=0.21154
Allele Frequency Aggregator European Sub 36686 G=0.78161 A=0.21839
Allele Frequency Aggregator Other Sub 7078 G=0.7845 A=0.2155
Allele Frequency Aggregator African Sub 3478 G=0.8637 A=0.1363
Allele Frequency Aggregator Latin American 2 Sub 628 G=0.876 A=0.124
Allele Frequency Aggregator Latin American 1 Sub 500 G=0.832 A=0.168
Allele Frequency Aggregator Asian Sub 164 G=0.421 A=0.579
Allele Frequency Aggregator South Asian Sub 94 G=0.80 A=0.20
14KJPN JAPANESE Study-wide 28166 G=0.60946 A=0.39054
8.3KJPN JAPANESE Study-wide 16712 G=0.60346 A=0.39654
1000Genomes_30x Global Study-wide 6404 G=0.7711 A=0.2289
1000Genomes_30x African Sub 1786 G=0.8880 A=0.1120
1000Genomes_30x Europe Sub 1266 G=0.7978 A=0.2022
1000Genomes_30x South Asian Sub 1202 G=0.8328 A=0.1672
1000Genomes_30x East Asian Sub 1170 G=0.4248 A=0.5752
1000Genomes_30x American Sub 980 G=0.861 A=0.139
1000Genomes Global Study-wide 5008 G=0.7620 A=0.2380
1000Genomes African Sub 1322 G=0.8873 A=0.1127
1000Genomes East Asian Sub 1008 G=0.4286 A=0.5714
1000Genomes Europe Sub 1006 G=0.7982 A=0.2018
1000Genomes South Asian Sub 978 G=0.835 A=0.165
1000Genomes American Sub 694 G=0.852 A=0.148
KOREAN population from KRGDB KOREAN Study-wide 2924 G=0.4942 A=0.5058, C=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.768 A=0.232
Northern Sweden ACPOP Study-wide 600 G=0.805 A=0.195
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.837 A=0.163
CNV burdens in cranial meningiomas Global Study-wide 534 G=0.478 A=0.522
CNV burdens in cranial meningiomas CRM Sub 534 G=0.478 A=0.522
PharmGKB Aggregated Global Study-wide 504 G=0.698 A=0.302
PharmGKB Aggregated PA149585145 Sub 358 G=0.615 A=0.385
PharmGKB Aggregated PA135943405 Sub 146 G=0.904 A=0.096
FINRISK Finnish from FINRISK project Study-wide 272 G=0.890 A=0.110
Qatari Global Study-wide 214 G=0.836 A=0.164
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.349 A=0.651
SGDP_PRJ Global Study-wide 180 G=0.372 A=0.628
Siberian Global Study-wide 14 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 22 NC_000022.11:g.42130692G>A
GRCh38.p14 chr 22 NC_000022.11:g.42130692G>C
gene/pseudogene RefSeqGene (LRG_303) NG_008376.4:g.5119C>T
gene/pseudogene RefSeqGene (LRG_303) NG_008376.4:g.5119C>G
GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 NW_015148968.1:g.8433A>G
GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 NW_015148968.1:g.8433A>C
GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 NW_014040931.1:g.24281A>G
GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 NW_014040931.1:g.24281A>C
GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 NW_009646208.1:g.16258A>G
GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 NW_009646208.1:g.16258A>C
GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 NW_004504305.1:g.53019A>G
GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 NW_004504305.1:g.53019A>C
GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 NT_187682.1:g.53033G>A
GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 NT_187682.1:g.53033G>C
GRCh37.p13 chr 22 NC_000022.10:g.42526694G>A
GRCh37.p13 chr 22 NC_000022.10:g.42526694G>C
Gene: CYP2D6, cytochrome P450 family 2 subfamily D member 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CYP2D6 transcript variant 1 NM_000106.6:c.100C>T P [CCA] > S [TCA] Coding Sequence Variant
cytochrome P450 2D6 isoform 1 NP_000097.3:p.Pro34Ser P (Pro) > S (Ser) Missense Variant
CYP2D6 transcript variant 1 NM_000106.6:c.100C>G P [CCA] > A [GCA] Coding Sequence Variant
cytochrome P450 2D6 isoform 1 NP_000097.3:p.Pro34Ala P (Pro) > A (Ala) Missense Variant
CYP2D6 transcript variant 2 NM_001025161.3:c.100C>T P [CCA] > S [TCA] Coding Sequence Variant
cytochrome P450 2D6 isoform 2 NP_001020332.2:p.Pro34Ser P (Pro) > S (Ser) Missense Variant
CYP2D6 transcript variant 2 NM_001025161.3:c.100C>G P [CCA] > A [GCA] Coding Sequence Variant
cytochrome P450 2D6 isoform 2 NP_001020332.2:p.Pro34Ala P (Pro) > A (Ala) 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: 31932 )
ClinVar Accession Disease Names Clinical Significance
RCV000018389.23 Debrisoquine, poor metabolism of Drug-Response
RCV000603460.1 not specified Likely-Benign
RCV000734607.3 not provided Other
RCV001029560.2 Tramadol response Drug-Response
RCV001030444.2 Deutetrabenazine response Drug-Response
RCV001093717.2 Tamoxifen response 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 C
GRCh38.p14 chr 22 NC_000022.11:g.42130692= NC_000022.11:g.42130692G>A NC_000022.11:g.42130692G>C
gene/pseudogene RefSeqGene (LRG_303) NG_008376.4:g.5119= NG_008376.4:g.5119C>T NG_008376.4:g.5119C>G
CYP2D6 transcript variant 1 NM_000106.6:c.100= NM_000106.6:c.100C>T NM_000106.6:c.100C>G
CYP2D6 transcript variant 1 NM_000106.5:c.100= NM_000106.5:c.100C>T NM_000106.5:c.100C>G
CYP2D6 transcript variant 2 NM_001025161.3:c.100= NM_001025161.3:c.100C>T NM_001025161.3:c.100C>G
CYP2D6 transcript variant 2 NM_001025161.2:c.100= NM_001025161.2:c.100C>T NM_001025161.2:c.100C>G
GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 NW_015148968.1:g.8433A>G NW_015148968.1:g.8433= NW_015148968.1:g.8433A>C
GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 NW_014040931.1:g.24281A>G NW_014040931.1:g.24281= NW_014040931.1:g.24281A>C
GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 NW_009646208.1:g.16258A>G NW_009646208.1:g.16258= NW_009646208.1:g.16258A>C
GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 NW_004504305.1:g.53019A>G NW_004504305.1:g.53019= NW_004504305.1:g.53019A>C
GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 NT_187682.1:g.53033= NT_187682.1:g.53033G>A NT_187682.1:g.53033G>C
GRCh37.p13 chr 22 NC_000022.10:g.42526694= NC_000022.10:g.42526694G>A NC_000022.10:g.42526694G>C
cytochrome P450 2D6 isoform 1 NP_000097.3:p.Pro34= NP_000097.3:p.Pro34Ser NP_000097.3:p.Pro34Ala
cytochrome P450 2D6 isoform 2 NP_001020332.2:p.Pro34= NP_001020332.2:p.Pro34Ser NP_001020332.2:p.Pro34Ala
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#.

108 SubSNP, 20 Frequency, 6 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CMGMM ss869826 Oct 13, 2000 (86)
2 LEE ss1539421 Oct 13, 2000 (86)
3 BIOVENTURES ss32476023 May 24, 2005 (125)
4 SSAHASNP ss35370007 May 24, 2005 (125)
5 PHARMGKB_COBRA ss69365533 May 17, 2007 (127)
6 HGSV ss77270115 Dec 07, 2007 (129)
7 HGSV ss78155853 Dec 07, 2007 (129)
8 PHARMGKB_AB_DME ss84158081 Dec 15, 2007 (130)
9 CORNELL ss86237398 Mar 23, 2008 (129)
10 BCMHGSC_JDW ss91930857 Mar 24, 2008 (129)
11 1000GENOMES ss112671852 Jan 25, 2009 (130)
12 ILLUMINA-UK ss117416821 Feb 14, 2009 (130)
13 ENSEMBL ss138360510 Dec 01, 2009 (131)
14 ILLUMINA ss152798072 Dec 01, 2009 (131)
15 GMI ss157217285 Dec 01, 2009 (131)
16 ILLUMINA ss159137620 Dec 01, 2009 (131)
17 SEATTLESEQ ss159744647 Dec 01, 2009 (131)
18 EGP_SNPS ss159831267 Dec 01, 2009 (131)
19 ILLUMINA ss159912066 Dec 01, 2009 (131)
20 OMICIA ss169703608 Feb 13, 2013 (137)
21 ILLUMINA ss170407354 Jul 04, 2010 (132)
22 1000GENOMES ss228698365 Jul 14, 2010 (132)
23 1000GENOMES ss238081975 Jul 15, 2010 (132)
24 1000GENOMES ss244197297 Jul 15, 2010 (132)
25 OMIM-CURATED-RECORDS ss275514387 Nov 22, 2010 (133)
26 GMI ss283649257 May 04, 2012 (137)
27 PJP ss292767926 May 09, 2011 (134)
28 NHLBI-ESP ss342544650 May 09, 2011 (134)
29 ILLUMINA ss479714162 Sep 08, 2015 (146)
30 1000GENOMES ss491194355 May 04, 2012 (137)
31 EXOME_CHIP ss491572634 May 04, 2012 (137)
32 CLINSEQ_SNP ss491825753 May 04, 2012 (137)
33 TISHKOFF ss566667094 Apr 25, 2013 (138)
34 SSMP ss662596383 Apr 25, 2013 (138)
35 ILLUMINA ss832650280 Jul 13, 2019 (153)
36 EVA-GONL ss995393826 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1067607090 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1082687840 Aug 21, 2014 (142)
39 1000GENOMES ss1367336245 Aug 21, 2014 (142)
40 DDI ss1429268141 Apr 01, 2015 (144)
41 EVA_FINRISK ss1584128346 Apr 01, 2015 (144)
42 EVA_EXAC ss1694379697 Apr 01, 2015 (144)
43 EVA_MGP ss1711571603 Apr 01, 2015 (144)
44 HAMMER_LAB ss1809806591 Sep 08, 2015 (146)
45 WEILL_CORNELL_DGM ss1938961323 Feb 12, 2016 (147)
46 ILLUMINA ss1959984055 Feb 12, 2016 (147)
47 JJLAB ss2030253510 Sep 14, 2016 (149)
48 USC_VALOUEV ss2158873734 Dec 20, 2016 (150)
49 SYSTEMSBIOZJU ss2629622778 Nov 08, 2017 (151)
50 ILLUMINA ss2635112635 Nov 08, 2017 (151)
51 GRF ss2704626619 Nov 08, 2017 (151)
52 GNOMAD ss2745192272 Nov 08, 2017 (151)
53 GNOMAD ss2750571891 Nov 08, 2017 (151)
54 AFFY ss2985240517 Nov 08, 2017 (151)
55 AFFY ss2985857686 Nov 08, 2017 (151)
56 SWEGEN ss3019375586 Nov 08, 2017 (151)
57 ILLUMINA ss3022190910 Nov 08, 2017 (151)
58 EVA_SAMSUNG_MC ss3023073587 Nov 08, 2017 (151)
59 BIOINF_KMB_FNS_UNIBA ss3028962583 Nov 08, 2017 (151)
60 CSIRBIOHTS ss3029638788 Nov 08, 2017 (151)
61 CSHL ss3352855512 Nov 08, 2017 (151)
62 ILLUMINA ss3636565851 Oct 12, 2018 (152)
63 ILLUMINA ss3638385699 Oct 12, 2018 (152)
64 OMUKHERJEE_ADBS ss3646568249 Oct 12, 2018 (152)
65 ILLUMINA ss3652655262 Oct 12, 2018 (152)
66 ILLUMINA ss3654008772 Oct 12, 2018 (152)
67 ACPOP ss3743969290 Jul 13, 2019 (153)
68 EVA ss3759434329 Jul 13, 2019 (153)
69 PACBIO ss3788837927 Jul 13, 2019 (153)
70 PACBIO ss3793701149 Jul 13, 2019 (153)
71 PACBIO ss3798587631 Jul 13, 2019 (153)
72 KHV_HUMAN_GENOMES ss3822593699 Jul 13, 2019 (153)
73 EVA ss3825454913 Apr 27, 2020 (154)
74 EVA ss3825534334 Apr 27, 2020 (154)
75 EVA ss3825548564 Apr 27, 2020 (154)
76 EVA ss3825972722 Apr 27, 2020 (154)
77 EVA ss3836012252 Apr 27, 2020 (154)
78 EVA ss3841634495 Apr 27, 2020 (154)
79 EVA ss3847149711 Apr 27, 2020 (154)
80 SGDP_PRJ ss3890637751 Apr 27, 2020 (154)
81 KRGDB ss3941035084 Apr 27, 2020 (154)
82 FSA-LAB ss3984237353 Apr 26, 2021 (155)
83 EVA ss3984761205 Apr 26, 2021 (155)
84 EVA ss3986088130 Apr 26, 2021 (155)
85 EVA ss3986866519 Apr 26, 2021 (155)
86 VINODS ss4034712638 Apr 26, 2021 (155)
87 VINODS ss4034758268 Apr 26, 2021 (155)
88 TOPMED ss5110781403 Apr 26, 2021 (155)
89 TOMMO_GENOMICS ss5232837310 Apr 26, 2021 (155)
90 EVA ss5236992034 Apr 26, 2021 (155)
91 EVA ss5237676626 Oct 16, 2022 (156)
92 1000G_HIGH_COVERAGE ss5311255747 Oct 16, 2022 (156)
93 EVA ss5441587772 Oct 16, 2022 (156)
94 HUGCELL_USP ss5503082746 Oct 16, 2022 (156)
95 EVA ss5512393117 Oct 16, 2022 (156)
96 1000G_HIGH_COVERAGE ss5618884945 Oct 16, 2022 (156)
97 EVA ss5624123293 Oct 16, 2022 (156)
98 SANFORD_IMAGENETICS ss5664576784 Oct 16, 2022 (156)
99 TOMMO_GENOMICS ss5794029320 Oct 16, 2022 (156)
100 EVA ss5799405134 Oct 16, 2022 (156)
101 YY_MCH ss5818748131 Oct 16, 2022 (156)
102 EVA ss5822131270 Oct 16, 2022 (156)
103 EVA ss5848570346 Oct 16, 2022 (156)
104 EVA ss5853409973 Oct 16, 2022 (156)
105 EVA ss5936580654 Oct 16, 2022 (156)
106 EVA ss5959434949 Oct 16, 2022 (156)
107 EVA ss5979638971 Oct 16, 2022 (156)
108 EVA ss5981139012 Oct 16, 2022 (156)
109 1000Genomes NC_000022.10 - 42526694 Oct 12, 2018 (152)
110 1000Genomes_30x NC_000022.11 - 42130692 Oct 16, 2022 (156)
111 ExAC NC_000022.10 - 42526694 Oct 12, 2018 (152)
112 FINRISK NC_000022.10 - 42526694 Apr 27, 2020 (154)
113 gnomAD - Genomes NC_000022.11 - 42130692 Apr 26, 2021 (155)
114 gnomAD - Exomes NC_000022.10 - 42526694 Jul 13, 2019 (153)
115 Genome of the Netherlands Release 5 NC_000022.10 - 42526694 Apr 27, 2020 (154)
116 KOREAN population from KRGDB NC_000022.10 - 42526694 Apr 27, 2020 (154)
117 Medical Genome Project healthy controls from Spanish population NC_000022.10 - 42526694 Apr 27, 2020 (154)
118 Northern Sweden NC_000022.10 - 42526694 Jul 13, 2019 (153)
119 CNV burdens in cranial meningiomas NC_000022.10 - 42526694 Apr 26, 2021 (155)
120 PharmGKB Aggregated NC_000022.11 - 42130692 Apr 27, 2020 (154)
121 Qatari NC_000022.10 - 42526694 Apr 27, 2020 (154)
122 SGDP_PRJ NC_000022.10 - 42526694 Apr 27, 2020 (154)
123 Siberian NC_000022.10 - 42526694 Apr 27, 2020 (154)
124 8.3KJPN NC_000022.10 - 42526694 Apr 26, 2021 (155)
125 14KJPN NC_000022.11 - 42130692 Oct 16, 2022 (156)
126 TopMed NC_000022.11 - 42130692 Apr 26, 2021 (155)
127 A Vietnamese Genetic Variation Database NC_000022.10 - 42526694 Jul 13, 2019 (153)
128 ALFA NC_000022.11 - 42130692 Apr 26, 2021 (155)
129 ClinVar RCV000018389.23 Oct 12, 2018 (152)
130 ClinVar RCV000603460.1 Oct 12, 2018 (152)
131 ClinVar RCV000734607.3 Oct 16, 2022 (156)
132 ClinVar RCV001029560.2 Oct 16, 2022 (156)
133 ClinVar RCV001030444.2 Oct 16, 2022 (156)
134 ClinVar RCV001093717.2 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)
rs58862176 May 25, 2008 (130)
rs117813846 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss35370007, ss77270115, ss78155853 NC_000022.8:40851191:G:A NC_000022.11:42130691:G:A (self)
ss91930857, ss112671852, ss117416821, ss283649257, ss292767926, ss491825753, ss2635112635 NC_000022.9:40856637:G:A NC_000022.11:42130691:G:A (self)
80894667, 5963030, 124807, 14525070, 19935877, 48212478, 687363, 17254155, 310793, 21003245, 42654731, 11390088, 90806617, 9868434, ss228698365, ss238081975, ss244197297, ss342544650, ss479714162, ss491194355, ss491572634, ss566667094, ss662596383, ss832650280, ss995393826, ss1067607090, ss1082687840, ss1367336245, ss1429268141, ss1584128346, ss1694379697, ss1711571603, ss1809806591, ss1938961323, ss1959984055, ss2030253510, ss2158873734, ss2629622778, ss2704626619, ss2745192272, ss2750571891, ss2985240517, ss2985857686, ss3019375586, ss3022190910, ss3023073587, ss3029638788, ss3352855512, ss3636565851, ss3638385699, ss3646568249, ss3652655262, ss3654008772, ss3743969290, ss3759434329, ss3788837927, ss3793701149, ss3798587631, ss3825454913, ss3825534334, ss3825548564, ss3825972722, ss3836012252, ss3841634495, ss3890637751, ss3941035084, ss3984237353, ss3984761205, ss3986088130, ss3986866519, ss5232837310, ss5441587772, ss5512393117, ss5624123293, ss5664576784, ss5799405134, ss5822131270, ss5848570346, ss5936580654, ss5959434949, ss5979638971, ss5981139012 NC_000022.10:42526693:G:A NC_000022.11:42130691:G:A (self)
RCV000018389.23, RCV000603460.1, RCV000734607.3, RCV001029560.2, RCV001030444.2, RCV001093717.2, 106410880, 571270589, 7685, 127866424, 385890350, 12202138094, ss169703608, ss275514387, ss3028962583, ss3822593699, ss3847149711, ss5110781403, ss5236992034, ss5237676626, ss5311255747, ss5503082746, ss5618884945, ss5794029320, ss5818748131, ss5853409973 NC_000022.11:42130691:G:A NC_000022.11:42130691:G:A (self)
ss869826, ss1539421, ss32476023, ss69365533, ss84158081, ss86237398, ss138360510, ss152798072, ss157217285, ss159137620, ss159744647, ss159831267, ss159912066, ss170407354 NT_011520.12:21917262:G:A NC_000022.11:42130691:G:A (self)
ss4034758268 NT_187682.1:53032:G:A NC_000022.11:42130691:G:A (self)
ss4034712638 NW_004504305.1:53018:A:A NC_000022.11:42130691:G:A (self)
48212478, ss3941035084 NC_000022.10:42526693:G:C NC_000022.11:42130691:G:C (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

93 citations for rs1065852
PMID Title Author Year Journal
2211621 Multiple mutations of the human cytochrome P450IID6 gene (CYP2D6) in poor metabolizers of debrisoquine. Study of the functional significance of individual mutations by expression of chimeric genes. Kagimoto M et al. 1990 The Journal of biological chemistry
12051754 CYP2D6.10 present in human liver microsomes shows low catalytic activity and thermal stability. Nakamura K et al. 2002 Biochemical and biophysical research communications
18547414 Genotyping panel for assessing response to cancer chemotherapy. Dai Z et al. 2008 BMC medical genomics
18698231 Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues. Johnson AD et al. 2008 Pharmacogenetics and genomics
19164093 Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects. Matimba A et al. 2009 Human genomics
19639055
20174590 Response to serotonin reuptake inhibitors in OCD is not influenced by common CYP2D6 polymorphisms. Van Nieuwerburgh FC et al. 2009 International journal of psychiatry in clinical practice
20548328 High-efficiency genotype analysis from formalin-fixed, paraffin-embedded tumor tissues. Sikora MJ et al. 2011 The pharmacogenomics journal
20847277 Genotyping of DNA samples isolated from formalin-fixed paraffin-embedded tissues using preamplification. Baak-Pablo R et al. 2010 The Journal of molecular diagnostics
20921971 Mapping genes that predict treatment outcome in admixed populations. Baye TM et al. 2010 The pharmacogenomics journal
21480951 Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients. Lim JS et al. 2011 British journal of clinical pharmacology
21790905 CYP2B6 SNPs are associated with methadone dose required for effective treatment of opioid addiction. Levran O et al. 2013 Addiction biology
21840870 Association of ABCB1, 5-HT3B receptor and CYP2D6 genetic polymorphisms with ondansetron and metoclopramide antiemetic response in Indonesian cancer patients treated with highly emetogenic chemotherapy. Perwitasari DA et al. 2011 Japanese journal of clinical oncology
22183189 The risk of recurrence in breast cancer patients treated with tamoxifen: polymorphisms of CYP2D6 and ABCB1. Teh LK et al. 2012 The AAPS journal
22479249 Whole genome amplification of DNA for genotyping pharmacogenetics candidate genes. Philips S et al. 2012 Frontiers in pharmacology
22482072 Genomics of Dementia: APOE- and CYP2D6-Related Pharmacogenetics. Cacabelos R et al. 2012 International journal of Alzheimer's disease
22552919 Bioinformatics and variability in drug response: a protein structural perspective. Lahti JL et al. 2012 Journal of the Royal Society, Interface
23133420 Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin. Suarez-Kurtz G et al. 2012 Frontiers in pharmacology
23207012 Reduced CYP2D6 function is associated with gefitinib-induced rash in patients with non-small cell lung cancer. Suzumura T et al. 2012 BMC cancer
24798984 Developing and Evaluating the HRM Technique for Identifying Cytochrome P450 2D6 Polymorphisms. Lu HC et al. 2015 Journal of clinical laboratory analysis
24868171 Possible impact of the CYP2D6*10 polymorphism on the nonlinear pharmacokinetic parameter estimates of paroxetine in Japanese patients with major depressive disorders. Saruwatari J et al. 2014 Pharmacogenomics and personalized medicine
24944790 Screening for 392 polymorphisms in 141 pharmacogenes. Kim JY et al. 2014 Biomedical reports
25159483 Cytochrome P450 2D6*10 genotype affects the pharmacokinetics of dimemorfan in healthy Chinese subjects. Pei Q et al. 2015 European journal of drug metabolism and pharmacokinetics
25419701 Exploring the distribution of genetic markers of pharmacogenomics relevance in Brazilian and Mexican populations. Bonifaz-Peña V et al. 2014 PloS one
25887915 Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan. Ilyas M et al. 2015 BMC genomics
26214065 No influence of CYP2D6*10 genotype and phenotype on the pharmacokinetics of nebivolol in healthy Chinese subjects. Luo X et al. 2015 Journal of clinical pharmacy and therapeutics
26316040 Association of Polymorphisms of Cytochrome P450 2D6 With Blood Hydroxychloroquine Levels in Patients With Systemic Lupus Erythematosus. Lee JY et al. 2016 Arthritis & rheumatology (Hoboken, N.J.)
26369774 Impact of New Genomic Technologies on Understanding Adverse Drug Reactions. Maggo SD et al. 2016 Clinical pharmacokinetics
26768225 The roles of apolipoprotein E3 and CYP2D6 (rs1065852) gene polymorphisms in the predictability of responses to individualized therapy with donepezil in Han Chinese patients with Alzheimer's disease. Lu J et al. 2016 Neuroscience letters
26793106 CYP2D7 Sequence Variation Interferes with TaqMan CYP2D6 (*) 15 and (*) 35 Genotyping. Riffel AK et al. 2015 Frontiers in pharmacology
26858644 Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling. Chua EW et al. 2016 Frontiers in pharmacology
27108086 Multiplex SNaPshot-a new simple and efficient CYP2D6 and ADRB1 genotyping method. Ben S et al. 2016 Human genomics
27110117 Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder. Medhasi S et al. 2016 Neuropsychiatric disease and treatment
27171561 Liver Function Test Abnormalities in Depressed Patients Treated with Antidepressants: A Real-World Systematic Observational Study in Psychiatric Settings. Voican CS et al. 2016 PloS one
27228982 Genetic polymorphisms analysis of CYP2D6 in the Uygur population. He X et al. 2016 BMC genomics
27467145 Variation in Human Cytochrome P-450 Drug-Metabolism Genes: A Gateway to the Understanding of Plasmodium vivax Relapses. Silvino AC et al. 2016 PloS one
27529241 The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors-Is Pharmacogenetics the Key? Daud AN et al. 2016 International journal of molecular sciences
27536078 Factors affecting the development of adverse drug reactions to β-blockers in hospitalized cardiac patient population. Mugoša S et al. 2016 Patient preference and adherence
27540311 Prevalence of CYP2D6*2, CYP2D6*4, CYP2D6*10, and CYP3A5*3 in Thai breast cancer patients undergoing tamoxifen treatment. Charoenchokthavee W et al. 2016 Breast cancer (Dove Medical Press)
27636225 An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine. Mnika K et al. 2016 Omics
27636550 A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. Mizzi C et al. 2016 PloS one
27665849 Influences of CYP2D6(*)10 polymorphisms on the pharmacokinetics of iloperidone and its metabolites in Chinese patients with schizophrenia: a population pharmacokinetic analysis. Pei Q et al. 2016 Acta pharmacologica Sinica
27716216 The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum. Gerhard GS et al. 2016 BMC medical genomics
27738374 Investigation of CYP2D6 Gene Polymorphisms in Turkish Population. Taskin B et al. 2016 Psychopharmacology bulletin
27785397 CYP2D6 allele distribution in Macedonians, Albanians and Romanies in the Republic of Macedonia. Kuzmanovska M et al. 2015 Balkan journal of medical genetics
27942231 CYP2D6 polymorphisms and their influence on risperidone treatment. Puangpetch A et al. 2016 Pharmacogenomics and personalized medicine
28178648 Polymorphisms of ESR1, UGT1A1, HCN1, MAP3K1 and CYP2B6 are associated with the prognosis of hormone receptor-positive early breast cancer. Kuo SH et al. 2017 Oncotarget
28343093 Influence of genetic variants of CYP2D6, CYP2C9, CYP2C19 and CYP3A4 on antiepileptic drug metabolism in pediatric patients with refractory epilepsy. López-García MA et al. 2017 Pharmacological reports
28603633 In vitro metabolism of exemestane by hepatic cytochrome P450s: impact of nonsynonymous polymorphisms on formation of the active metabolite 17β-dihydroexemestane. Peterson A et al. 2017 Pharmacology research & perspectives
29180876 The effect of CYP2D6 *10 polymorphism on adjuvant tamoxifen in Asian breast cancer patients: a meta-analysis. Lu J et al. 2017 OncoTargets and therapy
29193749 Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years. Borobia AM et al. 2018 Clinical and translational science
29279099 A review of the literature on the relationships between genetic polymorphisms and chemotherapy-induced nausea and vomiting. Singh KP et al. 2018 Critical reviews in oncology/hematology
29369497 Pharmacogenetics of Risperidone-Induced Insulin Resistance in Children and Adolescents with Autism Spectrum Disorder. Sukasem C et al. 2018 Basic & clinical pharmacology & toxicology
29500141 Polymorphisms in CYP450 Genes and the Therapeutic Effect of Atorvastatin on Ischemic Stroke: A Retrospective Cohort Study in Chinese Population. Peng C et al. 2018 Clinical therapeutics
29736057 A preliminary study of association of genetic variants with early response to olanzapine in schizophrenia. Singh A et al. 2018 Indian journal of psychiatry
29789925 Associations of polymorphisms of CYP2D6 and CYP2C9 with early onset severe pre-eclampsia and response to labetalol therapy. Sun CJ et al. 2018 Archives of gynecology and obstetrics
30068618 Cohort Profile: the Predictors of Breast Cancer Recurrence (ProBe CaRE) Premenopausal Breast Cancer Cohort Study in Denmark. Collin LJ et al. 2018 BMJ open
30093744 A Prospective Study to Evaluate the Effect of CYP2D6 Polymorphism on Plasma level of Risperidone and its Metabolite in North Indian Patients with Schizophrenia. Chavan BS et al. 2018 Indian journal of psychological medicine
30093869 Biological Predictors of Clozapine Response: A Systematic Review. Samanaite R et al. 2018 Frontiers in psychiatry
30593137 Population genetic difference of pharmacogenomic VIP gene variants in the Lisu population from Yunnan Province. Zhang C et al. 2018 Medicine
30706164 Effects of MAO-A and CYP450 on primaquine metabolism in healthy volunteers. Ariffin NM et al. 2019 Parasitology research
31019283 Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests. Thauvin-Robinet C et al. 2019 European journal of human genetics
31086207 Implications of genetic variation of common Drug Metabolizing Enzymes and ABC Transporters among the Pakistani Population. Afsar NA et al. 2019 Scientific reports
31264381 Gene polymorphism of cytochrome P450 significantly affects lung cancer susceptibility. Li M et al. 2019 Cancer medicine
31858263 Defining screening panel of functional variants of CYP1A1, CYP2C9, CYP2C19, CYP2D6, and CYP3A4 genes in Serbian population. Skadrić I et al. 2020 International journal of legal medicine
32219146 Influence of Cytochrome P450 2D6 Polymorphisms on the Efficacy of Oral Propranolol in Treating Infantile Hemangioma. Wang L et al. 2020 BioMed research international
32256400 Analysis of the Deleterious Single-Nucleotide Polymorphisms Associated With Antidepressant Efficacy in Major Depressive Disorder. Xin J et al. 2020 Frontiers in psychiatry
32457635 Polymorphisms of Drug-Metabolizing Enzymes and Transporters Contribute to the Individual Variations of Erlotinib Steady State Trough Concentration, Treatment Outcomes, and Adverse Reactions in Epidermal Growth Factor Receptor-Mutated Non-Small Cell Lung Cancer Patients. Liao D et al. 2020 Frontiers in pharmacology
32609646 Five genetic polymorphisms of cytochrome P450 enzymes in the Czech non-Roma and Czech Roma population samples. Dlouhá L et al. 2020 Drug metabolism and personalized therapy
32639515 Bayesian Pathway Analysis for Complex Interactions. Baurley JW et al. 2020 American journal of epidemiology
32681777 Five genetic polymorphisms of cytochrome P450 enzymes in the Czech non-Roma and Czech Roma population samples. Dlouhá L et al. 2020 Drug metabolism and personalized therapy
32699276 Genetic variation of pharmacogenomic VIP variants in Zhuang nationality of southern China. Liu Y et al. 2021 The pharmacogenomics journal
32827391 Pharmacogenetics of antipsychotics in adolescents with acute psychotic episode during first 14 days after admission: effectiveness and safety evaluation. Ivashchenko DV et al. 2020 Drug metabolism and personalized therapy
32994732 Bisoprolol responses (PK/PD) in hypertensive patients: A cytochrome P450 (CYP) 2D6 targeted polymorphism study. Mohammed Alkreathy H et al. 2020 Saudi journal of biological sciences
33430289 Combination of Genome-Wide Polymorphisms and Copy Number Variations of Pharmacogenes in Koreans. Han N et al. 2021 Journal of personalized medicine
33519226 Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. Fernandes MR et al. 2021 Pharmacogenomics and personalized medicine
33688237 Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype. Fonseca DJ et al. 2021 Pharmacogenomics and personalized medicine
33875422 Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment. Pernaute-Lau L et al. 2021 Antimicrobial agents and chemotherapy
34115022 Associations and interaction effects of maternal smoking and genetic polymorphisms of cytochrome P450 genes with risk of congenital heart disease in offspring: A case-control study. Diao J et al. 2021 Medicine
34302632 The association study between CYP20A1, CYP4F2, CYP2D6 gene polymorphisms and coronary heart disease risk in the Han population in southern China. Liang T et al. 2022 Genes & genomics
34366834 CYP2D6 Allele Frequency in Five Malaria Vivax Endemic Areas From Brazilian Amazon Region. Salles PF et al. 2021 Frontiers in pharmacology
34385834 Individualized Drugs' Selection by Evaluation of Drug Properties, Pharmacogenomics and Clinical Parameters: Performance of a Bioinformatic Tool Compared to a Clinically Established Counselling Process. Borro M et al. 2021 Pharmacogenomics and personalized medicine
34429635 Population Genetic Difference of Pharmacogenomic VIP Variants in the Tibetan Population. He C et al. 2021 Pharmacogenomics and personalized medicine
34434063 Genetic Polymorphisms of Pesticide-Metabolizing Enzymes and Transporters in Agricultural Workers and Thyroid Hormone Levels. Sirivarasai J et al. 2021 Risk management and healthcare policy
34540891 Umbrella Review on Associations Between Single Nucleotide Polymorphisms and Lung Cancer Risk. Li X et al. 2021 Frontiers in molecular biosciences
34621706 Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform. Kim B et al. 2021 Translational and clinical pharmacology
34798807 Genetic analysis of pharmacogenomic VIP variants in the Wa population from Yunnan Province of China. Li D et al. 2021 BMC genomic data
34823523 Prediction of the CYP2D6 enzymatic activity based on investigating of the CYP2D6 genotypes around the vivax malaria patients in Yunnan Province, China. Dong Y et al. 2021 Malaria journal
34949935 Genetic Polymorphisms of Very Important Pharmacogene Variants in the Blang Population from Yunnan Province in China. Wang Y et al. 2021 Pharmacogenomics and personalized medicine
34958284 Warfarin Pharmacogenomics for Precision Medicine in Real-Life Clinical Practice in Southern Africa: Harnessing 73 Variants in 29 Pharmacogenes. Muyambo S et al. 2022 Omics
35078561 Association between Maternal Drug Use and Cytochrome P450 Genetic Polymorphisms and the Risk of Congenital Heart Defects in Offspring. Qin JB et al. 2022 Biomedical and environmental sciences
35401003 CYP2D6 Gene Polymorphisms and Variable Metabolic Activity in Schizophrenia Patients of Han and Tibetan Populations. Li YH et al. 2022 Neuropsychiatric disease and treatment
35572141 Polymorphisms of Cytochromes P450 and Glutathione S-Transferases Synergistically Modulate Risk for Parkinson's Disease. Fan HH et al. 2022 Frontiers in aging neuroscience
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post825+45319f0