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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.

rs1801253

Current Build 157

Released September 3, 2024

Organism
Homo sapiens
Position
chr10:114045297 (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
G=0.2650035 (362529/1368016, GnomAD_exomes)
G=0.307038 (81270/264690, TOPMED)
G=0.303100 (44746/147628, GnomAD_genomes) (+ 21 more)
G=0.263997 (29630/112236, ExAC)
G=0.19642 (15209/77432, 38KJPN)
G=0.29066 (14194/48834, ALFA)
G=0.30351 (4600/15156, PharmGKB)
G=0.2255 (1548/6866, Korea4K)
G=0.3011 (1928/6404, 1000G_30X)
G=0.2983 (1494/5008, 1000G)
G=0.2411 (1080/4480, Estonian)
G=0.2483 (957/3854, ALSPAC)
G=0.2759 (1023/3708, TWINSUK)
G=0.2250 (630/2800, KOREAN)
G=0.211 (129/611, Vietnamese)
G=0.277 (166/600, NorthernSweden)
C=0.300 (160/534, MGP)
G=0.163 (83/508, SGDP_PRJ)
G=0.307 (100/326, HapMap)
G=0.233 (69/296, FINRISK)
G=0.421 (91/216, Qatari)
G=0.09 (5/54, Siberian)
G=0.21 (10/48, Ancient Sardinia)
G=0.18 (7/38, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ADRB1 : Missense Variant
Publications
83 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 48834 G=0.29066 C=0.70934 0.08961 0.508293 0.402097 9
European Sub 36936 G=0.27913 C=0.72087 0.081709 0.523446 0.394845 4
African Sub 3558 G=0.4092 C=0.5908 0.166948 0.34851 0.484542 0
African Others Sub 122 G=0.402 C=0.598 0.180328 0.377049 0.442623 0
African American Sub 3436 G=0.4095 C=0.5905 0.166473 0.347497 0.48603 0
Asian Sub 168 G=0.351 C=0.649 0.130952 0.428571 0.440476 0
East Asian Sub 112 G=0.321 C=0.679 0.089286 0.446429 0.464286 0
Other Asian Sub 56 G=0.41 C=0.59 0.214286 0.392857 0.392857 1
Latin American 1 Sub 488 G=0.320 C=0.680 0.094262 0.454918 0.45082 0
Latin American 2 Sub 626 G=0.190 C=0.810 0.035144 0.654952 0.309904 0
South Asian Sub 98 G=0.31 C=0.69 0.102041 0.489796 0.408163 0
Other Sub 6960 G=0.2966 C=0.7034 0.095402 0.502299 0.402299 3


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
gnomAD v4 - Exomes Global Study-wide 1368016 G=0.2650035 C=0.7349965
gnomAD v4 - Exomes European Sub 1145064 G=0.2645791 C=0.7354209
gnomAD v4 - Exomes South Asian Sub 82964 G=0.24460 C=0.75540
gnomAD v4 - Exomes American Sub 41450 G=0.15373 C=0.84627
gnomAD v4 - Exomes East Asian Sub 36338 G=0.21872 C=0.78128
gnomAD v4 - Exomes African Sub 31314 G=0.42135 C=0.57865
gnomAD v4 - Exomes Ashkenazi Jewish Sub 25222 G=0.37959 C=0.62041
gnomAD v4 - Exomes Middle Eastern sub 5664 G=0.3863 C=0.6137
TopMed Global Study-wide 264690 G=0.307038 C=0.692962
gnomAD v4 - Genomes Global Study-wide 147628 G=0.303100 C=0.696900
gnomAD v4 - Genomes European Sub 77364 G=0.26627 C=0.73373
gnomAD v4 - Genomes African Sub 41352 G=0.40738 C=0.59262
gnomAD v4 - Genomes American Sub 15182 G=0.22342 C=0.77658
gnomAD v4 - Genomes East Asian Sub 5154 G=0.2371 C=0.7629
gnomAD v4 - Genomes South Asian Sub 4832 G=0.2618 C=0.7382
gnomAD v4 - Genomes Ashkenazi Jewish Sub 3452 G=0.3792 C=0.6208
gnomAD v4 - Genomes Middle Eastern sub 292 G=0.384 C=0.616
ExAC Global Study-wide 112236 G=0.263997 C=0.736003
ExAC Europe Sub 67280 G=0.27530 C=0.72470
ExAC Asian Sub 24418 G=0.24158 C=0.75842
ExAC American Sub 11198 G=0.13520 C=0.86480
ExAC African Sub 8512 G=0.4078 C=0.5922
ExAC Other Sub 828 G=0.271 C=0.729
38KJPN JAPANESE Study-wide 77432 G=0.19642 C=0.80358
Allele Frequency Aggregator Total Global 48834 G=0.29066 C=0.70934
Allele Frequency Aggregator European Sub 36936 G=0.27913 C=0.72087
Allele Frequency Aggregator Other Sub 6960 G=0.2966 C=0.7034
Allele Frequency Aggregator African Sub 3558 G=0.4092 C=0.5908
Allele Frequency Aggregator Latin American 2 Sub 626 G=0.190 C=0.810
Allele Frequency Aggregator Latin American 1 Sub 488 G=0.320 C=0.680
Allele Frequency Aggregator Asian Sub 168 G=0.351 C=0.649
Allele Frequency Aggregator South Asian Sub 98 G=0.31 C=0.69
PharmGKB Aggregated Global Study-wide 15156 G=0.30351 C=0.69649
PharmGKB Aggregated PA159632416 Sub 6128 G=0.2846 C=0.7154
PharmGKB Aggregated PA142850942 Sub 5740 G=0.3303 C=0.6697
PharmGKB Aggregated PA140545282 Sub 1328 G=0.2824 C=0.7176
PharmGKB Aggregated PA141065571 Sub 1088 G=0.3162 C=0.6838
PharmGKB Aggregated PA129963455 Sub 398 G=0.211 C=0.789
PharmGKB Aggregated PA152253465 Sub 302 G=0.262 C=0.738
PharmGKB Aggregated PA134857826 Sub 172 G=0.453 C=0.547
Korean Genome Project 4K KOREAN Study-wide 6866 G=0.2255 C=0.7745
1000Genomes_30X Global Study-wide 6404 G=0.3011 C=0.6989
1000Genomes_30X African Sub 1786 G=0.4345 C=0.5655
1000Genomes_30X Europe Sub 1266 G=0.3065 C=0.6935
1000Genomes_30X South Asian Sub 1202 G=0.2646 C=0.7354
1000Genomes_30X East Asian Sub 1170 G=0.2120 C=0.7880
1000Genomes_30X American Sub 980 G=0.202 C=0.798
1000Genomes Global Study-wide 5008 G=0.2983 C=0.7017
1000Genomes African Sub 1322 G=0.4297 C=0.5703
1000Genomes East Asian Sub 1008 G=0.2123 C=0.7877
1000Genomes Europe Sub 1006 G=0.3151 C=0.6849
1000Genomes South Asian Sub 978 G=0.266 C=0.734
1000Genomes American Sub 694 G=0.195 C=0.805
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.2411 C=0.7589
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.2483 C=0.7517
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.2759 C=0.7241
KOREAN population from KRGDB KOREAN Study-wide 2800 G=0.2250 A=0.0000, C=0.7750
A Vietnamese Genetic Variation Database Global Study-wide 611 G=0.211 C=0.789
Northern Sweden ACPOP Study-wide 600 G=0.277 C=0.723
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.700 C=0.300
SGDP_PRJ Global Study-wide 508 G=0.163 C=0.837
HapMap Global Study-wide 326 G=0.307 C=0.693
HapMap African Sub 120 G=0.408 C=0.592
HapMap American Sub 120 G=0.317 C=0.683
HapMap Asian Sub 86 G=0.15 C=0.85
FINRISK Finnish from FINRISK project Study-wide 296 G=0.233 C=0.767
Qatari Global Study-wide 216 G=0.421 C=0.579
Siberian Global Study-wide 54 G=0.09 C=0.91
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 48 G=0.21 C=0.79
The Danish reference pan genome Danish Study-wide 38 G=0.18 C=0.82
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 10 NC_000010.11:g.114045297G>A
GRCh38.p14 chr 10 NC_000010.11:g.114045297G>C
GRCh37.p13 chr 10 NC_000010.10:g.115805056G>A
GRCh37.p13 chr 10 NC_000010.10:g.115805056G>C
ADRB1 RefSeqGene NG_012187.1:g.6251G>A
ADRB1 RefSeqGene NG_012187.1:g.6251G>C
Gene: ADRB1, adrenoceptor beta 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ADRB1 transcript NM_000684.3:c.1165G>A G [GGA] > R [AGA] Coding Sequence Variant
beta-1 adrenergic receptor NP_000675.1:p.Gly389Arg G (Gly) > R (Arg) Missense Variant
ADRB1 transcript NM_000684.3:c.1165G>C G [GGA] > R [CGA] Coding Sequence Variant
beta-1 adrenergic receptor NP_000675.1:p.Gly389Arg G (Gly) > R (Arg) 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: C (allele ID: 32785 )
ClinVar Accession Disease Names Clinical Significance
RCV000019322.4 RECLASSIFIED - ADRB1 POLYMORPHISM Benign
RCV002508776.1 Pulmonary disease, chronic obstructive, susceptibility to Association
RCV003974844.1 ADRB1-related disorder Benign
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 10 NC_000010.11:g.114045297= NC_000010.11:g.114045297G>A NC_000010.11:g.114045297G>C
GRCh37.p13 chr 10 NC_000010.10:g.115805056= NC_000010.10:g.115805056G>A NC_000010.10:g.115805056G>C
ADRB1 RefSeqGene NG_012187.1:g.6251= NG_012187.1:g.6251G>A NG_012187.1:g.6251G>C
ADRB1 transcript NM_000684.3:c.1165= NM_000684.3:c.1165G>A NM_000684.3:c.1165G>C
ADRB1 transcript NM_000684.2:c.1165= NM_000684.2:c.1165G>A NM_000684.2:c.1165G>C
beta-1 adrenergic receptor NP_000675.1:p.Gly389= NP_000675.1:p.Gly389Arg NP_000675.1:p.Gly389Arg
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#.

147 SubSNP, 26 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2421491 Nov 14, 2000 (89)
2 BCM_SSAHASNP ss10583468 Jul 11, 2003 (116)
3 WI_SSAHASNP ss12060750 Jul 11, 2003 (116)
4 CSHL-HAPMAP ss16486007 Feb 27, 2004 (120)
5 SSAHASNP ss20730945 Apr 05, 2004 (123)
6 SEQUENOM ss24803559 Sep 20, 2004 (123)
7 PGA-UW-FHCRC ss28525353 Dec 02, 2004 (124)
8 ABI ss38568848 Mar 10, 2006 (126)
9 RIKENSNPRC ss49847787 Mar 10, 2006 (126)
10 PHARMGKB_CREATE ss69367179 May 18, 2007 (127)
11 PHARMGKB_INVEST ss69368395 May 18, 2007 (127)
12 PHARMGKB_APP ss69369186 May 18, 2007 (127)
13 CGM_KYOTO ss76866780 Dec 06, 2007 (129)
14 PHARMGKB_GERA ss84129481 Dec 15, 2007 (130)
15 PHARMGKB_CREATE ss84173035 Dec 15, 2007 (130)
16 BCMHGSC_JDW ss88362344 Mar 23, 2008 (129)
17 CNG ss95210592 Mar 25, 2008 (129)
18 HUMANGENOME_JCVI ss97585731 Feb 05, 2009 (130)
19 PHARMGKB_PEAR ss105108111 Feb 05, 2009 (130)
20 PHARMGKB_INVEST ss105110336 Feb 05, 2009 (130)
21 BGI ss106703109 Feb 05, 2009 (130)
22 ENSEMBL ss131842762 Dec 01, 2009 (131)
23 ENSEMBL ss132098865 Dec 01, 2009 (131)
24 SEATTLESEQ ss159721476 Dec 01, 2009 (131)
25 COMPLETE_GENOMICS ss168752685 Jul 04, 2010 (132)
26 ILLUMINA ss172925432 Jul 04, 2010 (132)
27 BUSHMAN ss202046906 Jul 04, 2010 (132)
28 BCM-HGSC-SUB ss207417401 Jul 04, 2010 (132)
29 1000GENOMES ss224953275 Jul 14, 2010 (132)
30 1000GENOMES ss235342767 Jul 15, 2010 (132)
31 1000GENOMES ss242016132 Jul 15, 2010 (132)
32 OMICIA ss244238804 May 27, 2010 (132)
33 ILLUMINA ss244285121 Jul 04, 2010 (132)
34 OMIM-CURATED-RECORDS ss263197783 Nov 04, 2010 (133)
35 PJP ss290936052 May 09, 2011 (134)
36 NHLBI-ESP ss342308938 May 09, 2011 (134)
37 ILLUMINA ss410916068 Sep 17, 2011 (135)
38 1000GENOMES ss491005343 May 04, 2012 (137)
39 EXOME_CHIP ss491440883 May 04, 2012 (137)
40 CLINSEQ_SNP ss491632867 May 04, 2012 (137)
41 SSMP ss657395475 Apr 25, 2013 (138)
42 ILLUMINA ss780890902 Sep 08, 2015 (146)
43 ILLUMINA ss783577243 Sep 08, 2015 (146)
44 EVA-GONL ss987946940 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1067516432 Aug 21, 2014 (142)
46 1000GENOMES ss1339164214 Aug 21, 2014 (142)
47 EVA_GENOME_DK ss1575368100 Apr 01, 2015 (144)
48 EVA_FINRISK ss1584070579 Apr 01, 2015 (144)
49 EVA_DECODE ss1597625094 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1625491405 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1668485438 Apr 01, 2015 (144)
52 EVA_EXAC ss1690088686 Apr 01, 2015 (144)
53 EVA_MGP ss1711270703 Apr 01, 2015 (144)
54 ILLUMINA ss1751948297 Sep 08, 2015 (146)
55 ILLUMINA ss1917851882 Feb 12, 2016 (147)
56 WEILL_CORNELL_DGM ss1931306963 Feb 12, 2016 (147)
57 ILLUMINA ss1946293855 Feb 12, 2016 (147)
58 ILLUMINA ss1959296511 Feb 12, 2016 (147)
59 GENOMED ss1967229286 Jul 19, 2016 (147)
60 JJLAB ss2026386754 Sep 14, 2016 (149)
61 USC_VALOUEV ss2154664369 Dec 20, 2016 (150)
62 GRF ss2698922484 Nov 08, 2017 (151)
63 ILLUMINA ss2710721025 Nov 08, 2017 (151)
64 GNOMAD ss2738539999 Nov 08, 2017 (151)
65 GNOMAD ss2748476033 Nov 08, 2017 (151)
66 GNOMAD ss2893674533 Nov 08, 2017 (151)
67 AFFY ss2985571628 Nov 08, 2017 (151)
68 SWEGEN ss3007188252 Nov 08, 2017 (151)
69 ILLUMINA ss3021277528 Nov 08, 2017 (151)
70 BIOINF_KMB_FNS_UNIBA ss3026982358 Nov 08, 2017 (151)
71 CSHL ss3349321822 Nov 08, 2017 (151)
72 ILLUMINA ss3634425178 Oct 12, 2018 (152)
73 ILLUMINA ss3637875472 Oct 12, 2018 (152)
74 ILLUMINA ss3640132519 Oct 12, 2018 (152)
75 OMUKHERJEE_ADBS ss3646415653 Oct 12, 2018 (152)
76 URBANLAB ss3649470392 Oct 12, 2018 (152)
77 ILLUMINA ss3651636957 Oct 12, 2018 (152)
78 EGCUT_WGS ss3674604880 Jul 13, 2019 (153)
79 PATHPUNJABI ss3685990251 Jul 13, 2019 (153)
80 EVA_DECODE ss3690730784 Jul 13, 2019 (153)
81 ACPOP ss3737700350 Jul 13, 2019 (153)
82 ILLUMINA ss3744372155 Jul 13, 2019 (153)
83 ILLUMINA ss3744726131 Jul 13, 2019 (153)
84 EVA ss3748634838 Jul 13, 2019 (153)
85 ILLUMINA ss3772226403 Jul 13, 2019 (153)
86 KHV_HUMAN_GENOMES ss3813993198 Jul 13, 2019 (153)
87 EVA ss3824557207 Apr 26, 2020 (154)
88 EVA ss3825784336 Apr 26, 2020 (154)
89 EVA ss3832344877 Apr 26, 2020 (154)
90 EVA ss3839712692 Apr 26, 2020 (154)
91 EVA ss3845187159 Apr 26, 2020 (154)
92 SGDP_PRJ ss3875107207 Apr 26, 2020 (154)
93 KRGDB ss3923276057 Apr 26, 2020 (154)
94 FSA-LAB ss3983986907 Apr 26, 2021 (155)
95 EVA ss3984641247 Apr 26, 2021 (155)
96 EVA ss3984641248 Apr 26, 2021 (155)
97 EVA ss3985501733 Apr 26, 2021 (155)
98 EVA ss3986051875 Apr 26, 2021 (155)
99 EVA ss3986499625 Apr 26, 2021 (155)
100 EVA ss4017509101 Apr 26, 2021 (155)
101 TOPMED ss4867386368 Apr 26, 2021 (155)
102 TOMMO_GENOMICS ss6115541379 Nov 01, 2024 (157)
103 EVA ss6254363694 Nov 01, 2024 (157)
104 EVA ss6307676610 Nov 01, 2024 (157)
105 EVA ss6322400871 Nov 01, 2024 (157)
106 EVA ss6326481530 Nov 01, 2024 (157)
107 EVA ss6332094415 Nov 01, 2024 (157)
108 YEGNASUBRAMANIAN_LAB ss6343289031 Nov 01, 2024 (157)
109 EVA ss6349791011 Nov 01, 2024 (157)
110 EVA ss6350061470 Nov 01, 2024 (157)
111 KOGIC ss6382647951 Nov 01, 2024 (157)
112 EVA ss6404053985 Nov 01, 2024 (157)
113 EVA ss6404455920 Nov 01, 2024 (157)
114 EVA ss6404669439 Nov 01, 2024 (157)
115 GNOMAD ss6440995930 Nov 01, 2024 (157)
116 GNOMAD ss6864151232 Nov 01, 2024 (157)
117 TOMMO_GENOMICS ss8199588055 Nov 01, 2024 (157)
118 EVA ss8236887475 Nov 01, 2024 (157)
119 EVA ss8237210790 Nov 01, 2024 (157)
120 EVA ss8237656193 Nov 01, 2024 (157)
121 1000G_HIGH_COVERAGE ss8285555359 Nov 01, 2024 (157)
122 TRAN_CS_UWATERLOO ss8314429946 Nov 01, 2024 (157)
123 EVA ss8396201050 Nov 01, 2024 (157)
124 HUGCELL_USP ss8480970412 Nov 01, 2024 (157)
125 1000G_HIGH_COVERAGE ss8580278566 Nov 01, 2024 (157)
126 EVA ss8623950665 Nov 01, 2024 (157)
127 EVA ss8624013065 Nov 01, 2024 (157)
128 SANFORD_IMAGENETICS ss8624259282 Nov 01, 2024 (157)
129 TOMMO_GENOMICS ss8745990792 Nov 01, 2024 (157)
130 EVA ss8799403715 Nov 01, 2024 (157)
131 EVA ss8800062445 Nov 01, 2024 (157)
132 EVA ss8800162527 Nov 01, 2024 (157)
133 YY_MCH ss8811905555 Nov 01, 2024 (157)
134 EVA ss8824992867 Nov 01, 2024 (157)
135 EVA ss8847610876 Nov 01, 2024 (157)
136 EVA ss8848308481 Nov 01, 2024 (157)
137 EVA ss8849750946 Nov 01, 2024 (157)
138 EVA ss8880631029 Nov 01, 2024 (157)
139 EVA ss8936545920 Nov 01, 2024 (157)
140 EVA ss8941449712 Nov 01, 2024 (157)
141 EVA ss8979339730 Nov 01, 2024 (157)
142 EVA ss8980639898 Nov 01, 2024 (157)
143 EVA ss8981263195 Nov 01, 2024 (157)
144 EVA ss8981730336 Nov 01, 2024 (157)
145 EVA ss8981730337 Nov 01, 2024 (157)
146 EVA ss8982040722 Nov 01, 2024 (157)
147 LNCC-LABINFO ss8982077929 Nov 01, 2024 (157)
148 1000Genomes NC_000010.10 - 115805056 Oct 12, 2018 (152)
149 1000Genomes_30X NC_000010.11 - 114045297 Nov 01, 2024 (157)
150 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 115805056 Oct 12, 2018 (152)
151 Genetic variation in the Estonian population NC_000010.10 - 115805056 Oct 12, 2018 (152)
152 ExAC NC_000010.10 - 115805056 Oct 12, 2018 (152)
153 FINRISK NC_000010.10 - 115805056 Apr 26, 2020 (154)
154 The Danish reference pan genome NC_000010.10 - 115805056 Apr 26, 2020 (154)
155 gnomAD v4 - Exomes NC_000010.11 - 114045297 Nov 01, 2024 (157)
156 gnomAD v4 - Genomes NC_000010.11 - 114045297 Nov 01, 2024 (157)
157 HapMap NC_000010.11 - 114045297 Apr 26, 2020 (154)
158 KOREAN population from KRGDB NC_000010.10 - 115805056 Apr 26, 2020 (154)
159 Korean Genome Project 4K NC_000010.11 - 114045297 Nov 01, 2024 (157)
160 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 115805056 Apr 26, 2020 (154)
161 Northern Sweden NC_000010.10 - 115805056 Jul 13, 2019 (153)
162 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 115805056 Apr 26, 2021 (155)
163 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 190717 (NC_000010.10:115805055:G:C 542/776)
Row 190718 (NC_000010.10:115805055:G:C 550/784)

- Apr 26, 2021 (155)
164 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 190717 (NC_000010.10:115805055:G:C 542/776)
Row 190718 (NC_000010.10:115805055:G:C 550/784)

- Apr 26, 2021 (155)
165 PharmGKB Aggregated NC_000010.11 - 114045297 Apr 26, 2020 (154)
166 Qatari NC_000010.10 - 115805056 Apr 26, 2020 (154)
167 SGDP_PRJ NC_000010.10 - 115805056 Apr 26, 2020 (154)
168 Siberian NC_000010.10 - 115805056 Apr 26, 2020 (154)
169 38KJPN NC_000010.11 - 114045297 Nov 01, 2024 (157)
170 TopMed NC_000010.11 - 114045297 Apr 26, 2021 (155)
171 UK 10K study - Twins NC_000010.10 - 115805056 Oct 12, 2018 (152)
172 A Vietnamese Genetic Variation Database NC_000010.10 - 115805056 Jul 13, 2019 (153)
173 ALFA NC_000010.11 - 114045297 Nov 01, 2024 (157)
174 ClinVar RCV000019322.4 Nov 01, 2024 (157)
175 ClinVar RCV002508776.1 Nov 01, 2024 (157)
176 ClinVar RCV003974844.1 Nov 01, 2024 (157)
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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)
rs12718339 Sep 24, 2004 (123)
rs17091259 Oct 08, 2004 (123)
rs28365052 Mar 10, 2006 (126)
rs59130083 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
30453451, ss3923276057 NC_000010.10:115805055:G:A NC_000010.11:114045296:G:A (self)
ss88362344, ss168752685, ss202046906, ss207417401, ss244285121, ss290936052, ss491632867, ss1597625094 NC_000010.9:115795045:G:C NC_000010.11:114045296:G:C (self)
51614645, 28670238, 20343128, 323816, 67040, 2336668, 30453451, 386463, 10985215, 727660, 13348893, 27124187, 7180723, 28670238, 6360843, ss224953275, ss235342767, ss242016132, ss342308938, ss491005343, ss491440883, ss657395475, ss780890902, ss783577243, ss987946940, ss1067516432, ss1339164214, ss1575368100, ss1584070579, ss1625491405, ss1668485438, ss1690088686, ss1711270703, ss1751948297, ss1917851882, ss1931306963, ss1946293855, ss1959296511, ss1967229286, ss2026386754, ss2154664369, ss2698922484, ss2710721025, ss2738539999, ss2748476033, ss2893674533, ss2985571628, ss3007188252, ss3021277528, ss3349321822, ss3634425178, ss3637875472, ss3640132519, ss3646415653, ss3651636957, ss3674604880, ss3737700350, ss3744372155, ss3744726131, ss3748634838, ss3772226403, ss3824557207, ss3825784336, ss3832344877, ss3839712692, ss3875107207, ss3923276057, ss3983986907, ss3984641247, ss3984641248, ss3985501733, ss3986051875, ss3986499625, ss4017509101, ss6254363694, ss6307676610, ss6322400871, ss6326481530, ss6332094415, ss6343289031, ss6349791011, ss6350061470, ss6404455920, ss6404669439, ss8199588055, ss8396201050, ss8623950665, ss8624013065, ss8624259282, ss8799403715, ss8800062445, ss8800162527, ss8824992867, ss8847610876, ss8848308481, ss8936545920, ss8941449712, ss8979339730, ss8980639898, ss8981263195, ss8981730336, ss8981730337 NC_000010.10:115805055:G:C NC_000010.11:114045296:G:C (self)
RCV000019322.4, RCV002508776.1, RCV003974844.1, 67804501, 36318155, 391293303, 497717, 32499849, 1401, 132917199, 82932023, 13611545987, ss244238804, ss263197783, ss3026982358, ss3649470392, ss3685990251, ss3690730784, ss3813993198, ss3845187159, ss4867386368, ss6115541379, ss6382647951, ss6404053985, ss6440995930, ss6864151232, ss8236887475, ss8237210790, ss8237656193, ss8285555359, ss8314429946, ss8480970412, ss8580278566, ss8745990792, ss8811905555, ss8849750946, ss8880631029, ss8982040722, ss8982077929 NC_000010.11:114045296:G:C NC_000010.11:114045296:G:C (self)
ss10583468, ss12060750 NT_030059.10:34243613:G:C NC_000010.11:114045296:G:C (self)
ss16486007, ss20730945 NT_030059.11:34553581:G:C NC_000010.11:114045296:G:C (self)
ss2421491, ss24803559, ss28525353, ss38568848, ss49847787, ss69367179, ss69368395, ss69369186, ss76866780, ss84129481, ss84173035, ss95210592, ss97585731, ss105108111, ss105110336, ss106703109, ss131842762, ss132098865, ss159721476, ss172925432, ss410916068 NT_030059.13:66609519:G:C NC_000010.11:114045296:G:C (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.

83 citations for rs1801253
PMID Title Author Year Journal
10212248 A gain-of-function polymorphism in a G-protein coupling domain of the human beta1-adrenergic receptor. Mason DA et al. 1999 The Journal of biological chemistry
12374873 Synergistic polymorphisms of beta1- and alpha2C-adrenergic receptors and the risk of congestive heart failure. Small KM et al. 2002 The New England journal of medicine
16120061 The functional significance of genetic variation within the beta-adrenoceptor. Sandilands AJ et al. 2005 British journal of clinical pharmacology
16844790 A polymorphism within a conserved beta(1)-adrenergic receptor motif alters cardiac function and beta-blocker response in human heart failure. Liggett SB et al. 2006 Proceedings of the National Academy of Sciences of the United States of America
17150099 Beta2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus. Pinelli M et al. 2006 BMC medical genetics
17335470 Studies of associations between the Arg389Gly polymorphism of the beta1-adrenergic receptor gene (ADRB1) and hypertension and obesity in 7677 Danish white subjects. Gjesing AP et al. 2007 Diabetic medicine
17496726 Synergistic polymorphisms of beta1 and alpha2C-adrenergic receptors and the influence on left ventricular ejection fraction response to beta-blocker therapy in heart failure. Lobmeyer MT et al. 2007 Pharmacogenetics and genomics
17512307 Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations. Lima JJ et al. 2007 Metabolism
18059082 Association of ADRB1 and UCP3 gene polymorphisms with insulin sensitivity but not obesity. Mottagui-Tabar S et al. 2008 Hormone research
18187665 Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease. Ashley-Koch AE et al. 2008 Blood
18534365 Common beta-adrenergic receptor polymorphisms are not associated with risk of sudden cardiac death in patients with coronary artery disease. Tseng ZH et al. 2008 Heart rhythm
18615004 beta-adrenergic receptor gene polymorphisms and beta-blocker treatment outcomes in hypertension. Pacanowski MA et al. 2008 Clinical pharmacology and therapeutics
18794727 Genetic and gene expression studies implicate renin and endothelin-1 in edema caused by peroxisome proliferator-activated receptor gamma agonists. Geese WJ et al. 2008 Pharmacogenetics and genomics
19379518 Development of a fingerprinting panel using medically relevant polymorphisms. Cross DS et al. 2009 BMC medical genomics
19553224 Trp64Arg polymorphism in ADRB3 gene is associated with elite endurance performance. Santiago C et al. 2011 British journal of sports medicine
19743955 Polymorphisms of the beta1-adrenergic receptor gene are associated with essential hypertension in Chinese. Peng Y et al. 2009 Clinical chemistry and laboratory medicine
19842931 GRK5 Gln41Leu polymorphism is not associated with sensitivity to beta(1)-adrenergic blockade in humans. Kurnik D et al. 2009 Pharmacogenomics
20401335 Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype. Driss A et al. 2009 Genomics insights
20521218 Progress toward genetic tailoring of heart failure therapy. Lillvis JH et al. 2010 Current opinion in molecular therapeutics
20565774 Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. Cross DS et al. 2010 BMC genetics
20676228
20869266 Single-nucleotide polymorphisms in the β-adrenergic receptor genes are associated with lung allograft utilization. Sapru A et al. 2011 The Journal of heart and lung transplantation
20921971 Mapping genes that predict treatment outcome in admixed populations. Baye TM et al. 2010 The pharmacogenomics journal
20952631 Association of single-nucleotide polymorphisms from 17 candidate genes with baseline symptom-limited exercise test duration and decrease in duration over 20 years: the Coronary Artery Risk Development in Young Adults (CARDIA) fitness study. Sarzynski MA et al. 2010 Circulation. Cardiovascular genetics
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
21172166 Pharmacogenetics of antidepressant response. Porcelli S et al. 2011 Journal of psychiatry & neuroscience
21395649 Association of beta-adrenergic receptor polymorphisms and mortality in carvedilol-treated chronic heart-failure patients. Petersen M et al. 2011 British journal of clinical pharmacology
21414566 β2 adrenergic receptor polymorphisms and nocturnal blood pressure dipping status in the Wisconsin Sleep Cohort Study. Vardeny O et al. 2011 Journal of the American Society of Hypertension
21444836 Association of hypertension drug target genes with blood pressure and hypertension in 86,588 individuals. Johnson AD et al. 2011 Hypertension (Dallas, Tex.
21807569 β-1 and β-2 adrenergic receptor polymorphism and association with cardiovascular response to orthostatic screening. Wittwer ED et al. 2011 Autonomic neuroscience
21894447 Are centenarians genetically predisposed to lower disease risk? Ruiz JR et al. 2012 Age (Dordrecht, Netherlands)
21953487 Beyond genome-wide association studies: new strategies for identifying genetic determinants of hypertension. Wang X et al. 2011 Current hypertension reports
22024213 A novel gene-environment interaction involved in endometriosis. McCarty CA et al. 2012 International journal of gynaecology and obstetrics
22495925 Genetic polymorphisms inside and outside the MHC improve prediction of AS radiographic severity in addition to clinical variables. Bartolomé N et al. 2012 Rheumatology (Oxford, England)
22552919 Bioinformatics and variability in drug response: a protein structural perspective. Lahti JL et al. 2012 Journal of the Royal Society, Interface
22683993 A mutation-centric approach to identifying pharmacogenomic relations in text. Rance B et al. 2012 Journal of biomedical informatics
22703382 Effect of the Arg389Gly β₁-adrenoceptor polymorphism on plasma renin activity and heart rate, and the genotype-dependent response to metoprolol treatment. Petersen M et al. 2012 Clinical and experimental pharmacology & physiology
22938532 Sequencing and analysis of a South Asian-Indian personal genome. Gupta R et al. 2012 BMC genomics
23065660 GNAS A-1121G variant is associated with improved diastolic dysfunction in response to exercise training in heart failure patients. Alves AJ et al. 2013 International journal of sports medicine
23575227 The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study. Urbanek M et al. 2013 Human molecular genetics
23820649 Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Cooper DN et al. 2013 Human genetics
23856471 Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome. Duchatelet S et al. 2013 Circulation. Cardiovascular genetics
24332148 Genetic variation in the β1-adrenergic receptor is associated with the risk of atrial fibrillation after cardiac surgery. Jeff JM et al. 2014 American heart journal
25266489 Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China. Zhang J et al. 2014 BMC genetics
26091847 Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China. Wang L et al. 2015 BMC genetics
26111150 Association of the ADRB2 (rs2053044) polymorphism and angiotensin-converting enzyme-inhibitor blood pressure response in the African American Study of Kidney Disease and Hypertension. Anthony EG et al. 2015 Pharmacogenetics and genomics
26602751 Association of β-Adrenergic Receptor Gene Polymorphisms With Acute Coronary Syndrome and Cardiovascular Risk Factors in an Arab Population. El-Menyar A et al. 2016 Angiology
26602921 A Multiple Interaction Analysis Reveals ADRB3 as a Potential Candidate for Gallbladder Cancer Predisposition via a Complex Interaction with Other Candidate Gene Variations. Rai R et al. 2015 International journal of molecular sciences
26694722 Correlation of ADRB1 rs1801253 Polymorphism with Analgesic Effect of Fentanyl After Cancer Surgeries. Wei W et al. 2015 Medical science monitor
26879662 Impact of the β-1 adrenergic receptor polymorphism on tolerability and efficacy of bisoprolol therapy in Korean heart failure patients: association between β adrenergic receptor polymorphism and bisoprolol therapy in heart failure (ABBA) study. Lee HY et al. 2016 The Korean journal of internal medicine
27103841 Personalized medicine and treatment approaches in hypertension: current perspectives. Byrd JB et al. 2016 Integrated blood pressure control
27108086 Multiplex SNaPshot-a new simple and efficient CYP2D6 and ADRB1 genotyping method. Ben S et al. 2016 Human genomics
27233804 Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China. Jin T et al. 2016 BMC genetics
27247849 Genetic variation and cognitive dysfunction in opioid-treated patients with cancer. Kurita GP et al. 2016 Brain and behavior
27480026 Genome Wide Association Study Identifies L3MBTL4 as a Novel Susceptibility Gene for Hypertension. Liu X et al. 2016 Scientific reports
27589963 Discrepancies between human DNA, mRNA and protein reference sequences and their relation to single nucleotide variants in the human population. Shirota M et al. 2016 Database
27669015 Adrenergic Receptor Polymorphism and Maximal Exercise Capacity after Orthotopic Heart Transplantation. Métrich M et al. 2016 PloS one
29587766 ADRB3 polymorphism rs4994 (Trp64Arg) associates significantly with bodyweight elevation and dyslipidaemias in Saudis but not rs1801253 (Arg389Gly) polymorphism in ARDB1. Daghestani M et al. 2018 Lipids in health and disease
30387422 [Genetic Polymorphisms Associated with the Onset of Arterial Hypertension in a Portuguese Population]. Sousa AC et al. 2018 Acta medica portuguesa
30668166 β(2)-Adrenergic Receptor Gene Polymorphisms Are Associated with Cardiovascular Events But not All-Cause Mortality in Coronary Artery Disease Patients: A Meta-Analysis of Prospective Studies. Li Y et al. 2019 Genetic testing and molecular biomarkers
30753253 β1-Adrenoreceptor Polymorphisms and Blood Pressure: 49S Variant Increases Plasma Renin But Not Blood Pressure in Hypertensive Patients. Sandilands AJ et al. 2019 American journal of hypertension
30756358 Association of Genetic Polymorphisms in the Beta-1 Adrenergic Receptor with Recovery of Left Ventricular Ejection Fraction in Patients with Heart Failure. Luzum JA et al. 2019 Journal of cardiovascular translational research
31056593 POLYMORPHISMS IN β-ADRENERGIC RECEPTORS ARE ASSOCIATED WITH INCREASED RISK TO HAVE A POSITIVE HEAD-UP TILT TABLE TEST IN PATIENTS WITH VASOVAGAL SYNCOPE. Márquez MF et al. 2019 Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion
31469255 A genome-wide association and replication study of blood pressure in Ugandan early adolescents. Lule SA et al. 2019 Molecular genetics & genomic medicine
32398726 Genetic Polymorphisms, Mediterranean Diet and Microbiota-Associated Urolithin Metabotypes can Predict Obesity in Childhood-Adolescence. Cortés-Martín A et al. 2020 Scientific reports
32459809 Unique insights from ClinicalTrials.gov by mining protein mutations and RSids in addition to applying the Human Phenotype Ontology. Alag S et al. 2020 PloS one
32586526 Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome. Van Driest SL et al. 2020 The Journal of pediatrics
33053571 The role of Beta-1 receptor gene polymorphism in Beta-Blocker therapy for vasovagal syncope. Atici A et al. 2020 Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion
33451866 Influence of ADRB1, ADRB2, and COMT Genetic Polymorphisms on Postoperative Outcomes of Patients Undergoing Cardiac Valve Surgery. Dai S et al. 2021 Clinical therapeutics
33572708 Association of Genetic Variances in ADRB1 and PPARGC1a with Two-Kilometre Running Time-Trial Performance in Australian Football League Players: A Preliminary Study. Jacob Y et al. 2021 Sports (Basel, Switzerland)
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
34131278 Genetic polymorphisms associated with obesity in the Arab world: a systematic review. Younes S et al. 2021 International journal of obesity (2005)
34638656 Towards Understanding the Genetic Nature of Vasovagal Syncope. Matveeva N et al. 2021 International journal of molecular sciences
34713976 β1-receptor polymorphisms and junctional ectopic tachycardia in children after cardiac surgery. Dumeny L et al. 2022 Clinical and translational science
34716504 Investigating changes in β-adrenergic gene expression (ADRB1 and ADRB2) in Takotsubo (stress) cardiomyopathy syndrome; a pilot study. Tutgun Onrat S et al. 2021 Molecular biology reports
35099251 Beta-adrenergic receptors gene polymorphisms are associated with cardiac contractility and blood pressure variability. Matuskova L et al. 2021 Physiological research
35199539 Adrenergic receptors gene polymorphisms and autonomic nervous control of heart and vascular tone. Matušková L et al. 2021 Physiological research
35258481 Genetic biomarkers of life-threatening pheochromocytoma-induced cardiomyopathy. Amar J et al. 2022 Endocrine-related cancer
35743738 Pharmacogenomic Profile of Amazonian Amerindians. Rodrigues JCG et al. 2022 Journal of personalized medicine
36140820 Vasovagal Syncope Is Associated with Variants in Genes Involved in Neurohumoral Signaling Pathways. Titov B et al. 2022 Genes
36196520 Influence of genetic variants on remifentanil sensitivity in Chinese women. Niu H et al. 2022 Journal of clinical pharmacy and therapeutics
36825998 SNPs Sets in Codifying Genes for Xenobiotics-Processing Enzymes Are Associated with COPD Secondary to Biomass-Burning Smoke. Ambrocio-Ortiz E et al. 2023 Current issues in molecular biology
37798380 Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth. Beaumont RN et al. 2023 Nature genetics
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