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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs10581

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:202941190 (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=0.025441 (6734/264690, TOPMED)
A=0.025293 (3546/140198, GnomAD)
A=0.03011 (2137/70974, ALFA) (+ 18 more)
A=0.14489 (4094/28256, 14KJPN)
A=0.14457 (2423/16760, 8.3KJPN)
A=0.0554 (355/6404, 1000G_30x)
A=0.0603 (302/5008, 1000G)
A=0.0397 (153/3854, ALSPAC)
A=0.0367 (136/3708, TWINSUK)
A=0.1085 (317/2922, KOREAN)
A=0.0555 (99/1784, HapMap)
A=0.0619 (70/1130, Daghestan)
A=0.022 (22/998, GoNL)
A=0.032 (19/600, NorthernSweden)
A=0.026 (14/534, MGP)
A=0.028 (6/216, Qatari)
A=0.098 (21/214, Vietnamese)
G=0.41 (19/46, SGDP_PRJ)
A=0.05 (2/40, GENOME_DK)
G=0.50 (7/14, Siberian)
A=0.50 (7/14, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ADIPOR1 : 3 Prime UTR Variant
Publications
2 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 70974 G=0.96989 A=0.03011
European Sub 54976 G=0.96759 A=0.03241
African Sub 5198 G=0.9915 A=0.0085
African Others Sub 194 G=0.990 A=0.010
African American Sub 5004 G=0.9916 A=0.0084
Asian Sub 470 G=0.864 A=0.136
East Asian Sub 402 G=0.868 A=0.132
Other Asian Sub 68 G=0.84 A=0.16
Latin American 1 Sub 606 G=0.988 A=0.012
Latin American 2 Sub 5036 G=0.9881 A=0.0119
South Asian Sub 180 G=0.906 A=0.094
Other Sub 4508 G=0.9638 A=0.0362


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=0.974559 A=0.025441
gnomAD - Genomes Global Study-wide 140198 G=0.974707 A=0.025293
gnomAD - Genomes European Sub 75914 G=0.96787 A=0.03213
gnomAD - Genomes African Sub 42042 G=0.99115 A=0.00885
gnomAD - Genomes American Sub 13654 G=0.98242 A=0.01758
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.9747 A=0.0253
gnomAD - Genomes East Asian Sub 3120 G=0.8907 A=0.1093
gnomAD - Genomes Other Sub 2148 G=0.9674 A=0.0326
Allele Frequency Aggregator Total Global 70974 G=0.96989 A=0.03011
Allele Frequency Aggregator European Sub 54976 G=0.96759 A=0.03241
Allele Frequency Aggregator African Sub 5198 G=0.9915 A=0.0085
Allele Frequency Aggregator Latin American 2 Sub 5036 G=0.9881 A=0.0119
Allele Frequency Aggregator Other Sub 4508 G=0.9638 A=0.0362
Allele Frequency Aggregator Latin American 1 Sub 606 G=0.988 A=0.012
Allele Frequency Aggregator Asian Sub 470 G=0.864 A=0.136
Allele Frequency Aggregator South Asian Sub 180 G=0.906 A=0.094
14KJPN JAPANESE Study-wide 28256 G=0.85511 A=0.14489
8.3KJPN JAPANESE Study-wide 16760 G=0.85543 A=0.14457
1000Genomes_30x Global Study-wide 6404 G=0.9446 A=0.0554
1000Genomes_30x African Sub 1786 G=0.9966 A=0.0034
1000Genomes_30x Europe Sub 1266 G=0.9700 A=0.0300
1000Genomes_30x South Asian Sub 1202 G=0.8710 A=0.1290
1000Genomes_30x East Asian Sub 1170 G=0.8803 A=0.1197
1000Genomes_30x American Sub 980 G=0.984 A=0.016
1000Genomes Global Study-wide 5008 G=0.9397 A=0.0603
1000Genomes African Sub 1322 G=0.9962 A=0.0038
1000Genomes East Asian Sub 1008 G=0.8800 A=0.1200
1000Genomes Europe Sub 1006 G=0.9662 A=0.0338
1000Genomes South Asian Sub 978 G=0.866 A=0.134
1000Genomes American Sub 694 G=0.984 A=0.016
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9603 A=0.0397
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9633 A=0.0367
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.8915 A=0.1085
HapMap Global Study-wide 1784 G=0.9445 A=0.0555
HapMap American Sub 768 G=0.934 A=0.066
HapMap African Sub 586 G=0.990 A=0.010
HapMap Asian Sub 254 G=0.854 A=0.146
HapMap Europe Sub 176 G=0.972 A=0.028
Genome-wide autozygosity in Daghestan Global Study-wide 1130 G=0.9381 A=0.0619
Genome-wide autozygosity in Daghestan Daghestan Sub 626 G=0.942 A=0.058
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.944 A=0.056
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.934 A=0.066
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.981 A=0.019
Genome-wide autozygosity in Daghestan South Asian Sub 94 G=0.83 A=0.17
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=1.00 A=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.978 A=0.022
Northern Sweden ACPOP Study-wide 600 G=0.968 A=0.032
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.974 A=0.026
Qatari Global Study-wide 216 G=0.972 A=0.028
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.902 A=0.098
SGDP_PRJ Global Study-wide 46 G=0.41 A=0.59
The Danish reference pan genome Danish Study-wide 40 G=0.95 A=0.05
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 1 NC_000001.11:g.202941190G>A
GRCh37.p13 chr 1 NC_000001.10:g.202910318G>A
ADIPOR1 RefSeqGene NG_052860.1:g.22383C>T
Gene: ADIPOR1, adiponectin receptor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ADIPOR1 transcript variant 3 NM_001290557.1:c.*383= N/A 3 Prime UTR Variant
ADIPOR1 transcript variant 5 NM_001290629.1:c.*383= N/A 3 Prime UTR Variant
ADIPOR1 transcript variant 1 NM_015999.6:c.*383= N/A 3 Prime UTR Variant
ADIPOR1 transcript variant 4 NM_001290553.2:c.*383= N/A 3 Prime UTR Variant
ADIPOR1 transcript variant X1 XM_047421959.1:c.*383= N/A 3 Prime UTR Variant
ADIPOR1 transcript variant X2 XM_024447427.2:c.*383= N/A 3 Prime UTR 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.

Not Reported in ClinVar
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 1 NC_000001.11:g.202941190= NC_000001.11:g.202941190G>A
GRCh37.p13 chr 1 NC_000001.10:g.202910318= NC_000001.10:g.202910318G>A
ADIPOR1 RefSeqGene NG_052860.1:g.22383= NG_052860.1:g.22383C>T
ADIPOR1 transcript variant 1 NM_015999.6:c.*383= NM_015999.6:c.*383C>T
ADIPOR1 transcript variant 1 NM_015999.5:c.*383= NM_015999.5:c.*383C>T
ADIPOR1 transcript variant 1 NM_015999.4:c.*383= NM_015999.4:c.*383C>T
ADIPOR1 transcript variant 4 NM_001290553.2:c.*383= NM_001290553.2:c.*383C>T
ADIPOR1 transcript variant 4 NM_001290553.1:c.*383= NM_001290553.1:c.*383C>T
ADIPOR1 transcript variant 3 NM_001290557.1:c.*383= NM_001290557.1:c.*383C>T
ADIPOR1 transcript variant 5 NM_001290629.1:c.*383= NM_001290629.1:c.*383C>T
ADIPOR1 transcript variant X2 XM_024447427.2:c.*383= XM_024447427.2:c.*383C>T
ADIPOR1 transcript variant X1 XM_024447427.1:c.*383= XM_024447427.1:c.*383C>T
ADIPOR1 transcript variant X1 XM_047421959.1:c.*383= XM_047421959.1:c.*383C>T
ADIPOR1 transcript variant 2 NR_046083.1:n.1770= NR_046083.1:n.1770C>T
ADIPOR1 transcript variant 2 NM_001127687.1:c.*383= NM_001127687.1:c.*383C>T
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#.

77 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss12743 Sep 19, 2000 (52)
2 LEE ss1511232 Oct 04, 2000 (86)
3 LEE ss4404901 May 29, 2002 (106)
4 YUSUKE ss4923884 Aug 28, 2002 (108)
5 CGAP-GAI ss16246493 Feb 27, 2004 (120)
6 SEQUENOM ss24790796 Sep 20, 2004 (126)
7 IMCJ-GDT ss46563649 Mar 11, 2006 (126)
8 ILLUMINA ss75284234 Dec 06, 2007 (129)
9 HGSV ss83778206 Dec 14, 2007 (130)
10 KRIBB_YJKIM ss119338771 Dec 01, 2009 (131)
11 ILLUMINA ss123123662 Dec 01, 2009 (131)
12 ILLUMINA ss152795994 Dec 01, 2009 (131)
13 ILLUMINA ss159911098 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss167439180 Jul 04, 2010 (132)
15 ILLUMINA ss169571411 Jul 04, 2010 (132)
16 ILLUMINA ss170390541 Jul 04, 2010 (132)
17 1000GENOMES ss238483272 Jul 15, 2010 (132)
18 ILLUMINA ss479710281 Sep 08, 2015 (146)
19 ILLUMINA ss482199086 May 04, 2012 (137)
20 ILLUMINA ss484185839 May 04, 2012 (137)
21 ILLUMINA ss536374163 Sep 08, 2015 (146)
22 SSMP ss648634329 Apr 25, 2013 (138)
23 ILLUMINA ss779472964 Sep 08, 2015 (146)
24 ILLUMINA ss782538833 Sep 08, 2015 (146)
25 ILLUMINA ss825646596 Apr 01, 2015 (144)
26 ILLUMINA ss834942883 Sep 08, 2015 (146)
27 EVA-GONL ss976042119 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1068526961 Aug 21, 2014 (142)
29 1000GENOMES ss1294267672 Aug 21, 2014 (142)
30 HAMMER_LAB ss1397269368 Sep 08, 2015 (146)
31 EVA_GENOME_DK ss1574613127 Apr 01, 2015 (144)
32 EVA_DECODE ss1585436835 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1601932604 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1644926637 Apr 01, 2015 (144)
35 EVA_MGP ss1710939289 Apr 01, 2015 (144)
36 EVA_SVP ss1712396949 Apr 01, 2015 (144)
37 WEILL_CORNELL_DGM ss1919269698 Feb 12, 2016 (147)
38 JJLAB ss2020154994 Sep 14, 2016 (149)
39 USC_VALOUEV ss2148183276 Dec 20, 2016 (150)
40 SYSTEMSBIOZJU ss2624585475 Nov 08, 2017 (151)
41 ILLUMINA ss2632616615 Nov 08, 2017 (151)
42 GRF ss2698173299 Nov 08, 2017 (151)
43 GNOMAD ss2765141098 Nov 08, 2017 (151)
44 SWEGEN ss2988292471 Nov 08, 2017 (151)
45 CSHL ss3343866920 Nov 08, 2017 (151)
46 ILLUMINA ss3626284744 Oct 11, 2018 (152)
47 ILLUMINA ss3630647077 Oct 11, 2018 (152)
48 ILLUMINA ss3636046425 Oct 11, 2018 (152)
49 ILLUMINA ss3637807737 Oct 11, 2018 (152)
50 ILLUMINA ss3642814855 Oct 11, 2018 (152)
51 OMUKHERJEE_ADBS ss3646251388 Oct 11, 2018 (152)
52 EVA_DECODE ss3688439611 Jul 12, 2019 (153)
53 ACPOP ss3727777845 Jul 12, 2019 (153)
54 EVA ss3747215469 Jul 12, 2019 (153)
55 KHV_HUMAN_GENOMES ss3800223536 Jul 12, 2019 (153)
56 EVA ss3825585153 Apr 25, 2020 (154)
57 EVA ss3836697131 Apr 25, 2020 (154)
58 EVA ss3842108289 Apr 25, 2020 (154)
59 SGDP_PRJ ss3850700282 Apr 25, 2020 (154)
60 KRGDB ss3895991123 Apr 25, 2020 (154)
61 FSA-LAB ss3983959370 Apr 25, 2021 (155)
62 EVA ss3986014859 Apr 25, 2021 (155)
63 EVA ss4016956384 Apr 25, 2021 (155)
64 TOPMED ss4480231524 Apr 25, 2021 (155)
65 TOMMO_GENOMICS ss5147998593 Apr 25, 2021 (155)
66 1000G_HIGH_COVERAGE ss5245462178 Oct 12, 2022 (156)
67 EVA ss5314674555 Oct 12, 2022 (156)
68 EVA ss5324178200 Oct 12, 2022 (156)
69 HUGCELL_USP ss5445932541 Oct 12, 2022 (156)
70 1000G_HIGH_COVERAGE ss5519393073 Oct 12, 2022 (156)
71 SANFORD_IMAGENETICS ss5627258773 Oct 12, 2022 (156)
72 TOMMO_GENOMICS ss5675632534 Oct 12, 2022 (156)
73 YY_MCH ss5801553908 Oct 12, 2022 (156)
74 EVA ss5833128069 Oct 12, 2022 (156)
75 EVA ss5849243554 Oct 12, 2022 (156)
76 EVA ss5911587889 Oct 12, 2022 (156)
77 EVA ss5939087689 Oct 12, 2022 (156)
78 1000Genomes NC_000001.10 - 202910318 Oct 11, 2018 (152)
79 1000Genomes_30x NC_000001.11 - 202941190 Oct 12, 2022 (156)
80 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 202910318 Oct 11, 2018 (152)
81 Genome-wide autozygosity in Daghestan NC_000001.9 - 201176941 Apr 25, 2020 (154)
82 The Danish reference pan genome NC_000001.10 - 202910318 Apr 25, 2020 (154)
83 gnomAD - Genomes NC_000001.11 - 202941190 Apr 25, 2021 (155)
84 Genome of the Netherlands Release 5 NC_000001.10 - 202910318 Apr 25, 2020 (154)
85 HapMap NC_000001.11 - 202941190 Apr 25, 2020 (154)
86 KOREAN population from KRGDB NC_000001.10 - 202910318 Apr 25, 2020 (154)
87 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 202910318 Apr 25, 2020 (154)
88 Northern Sweden NC_000001.10 - 202910318 Jul 12, 2019 (153)
89 Qatari NC_000001.10 - 202910318 Apr 25, 2020 (154)
90 SGDP_PRJ NC_000001.10 - 202910318 Apr 25, 2020 (154)
91 Siberian NC_000001.10 - 202910318 Apr 25, 2020 (154)
92 8.3KJPN NC_000001.10 - 202910318 Apr 25, 2021 (155)
93 14KJPN NC_000001.11 - 202941190 Oct 12, 2022 (156)
94 TopMed NC_000001.11 - 202941190 Apr 25, 2021 (155)
95 UK 10K study - Twins NC_000001.10 - 202910318 Oct 11, 2018 (152)
96 A Vietnamese Genetic Variation Database NC_000001.10 - 202910318 Jul 12, 2019 (153)
97 ALFA NC_000001.11 - 202941190 Apr 25, 2021 (155)
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)
rs3182782 Jul 03, 2002 (106)
rs3737885 Oct 08, 2002 (108)
rs16850780 Mar 11, 2006 (126)
rs57988975 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83778206 NC_000001.8:199641974:G:A NC_000001.11:202941189:G:A (self)
30525, ss167439180, ss482199086, ss825646596, ss1397269368, ss1585436835, ss1712396949, ss3642814855 NC_000001.9:201176940:G:A NC_000001.11:202941189:G:A (self)
5108810, 2811215, 1845452, 1227920, 3168517, 56041, 1062710, 1311628, 2717262, 699630, 5967900, 2811215, 607438, ss238483272, ss479710281, ss484185839, ss536374163, ss648634329, ss779472964, ss782538833, ss834942883, ss976042119, ss1068526961, ss1294267672, ss1574613127, ss1601932604, ss1644926637, ss1710939289, ss1919269698, ss2020154994, ss2148183276, ss2624585475, ss2632616615, ss2698173299, ss2765141098, ss2988292471, ss3343866920, ss3626284744, ss3630647077, ss3636046425, ss3637807737, ss3646251388, ss3727777845, ss3747215469, ss3825585153, ss3836697131, ss3850700282, ss3895991123, ss3983959370, ss3986014859, ss4016956384, ss5147998593, ss5314674555, ss5324178200, ss5627258773, ss5833128069, ss5939087689 NC_000001.10:202910317:G:A NC_000001.11:202941189:G:A (self)
6919008, 36827772, 246654, 9469638, 43837859, 10589017653, ss3688439611, ss3800223536, ss3842108289, ss4480231524, ss5245462178, ss5445932541, ss5519393073, ss5675632534, ss5801553908, ss5849243554, ss5911587889 NC_000001.11:202941189:G:A NC_000001.11:202941189:G:A (self)
ss12743, ss1511232, ss4404901, ss4923884, ss16246493, ss24790796, ss46563649, ss75284234, ss119338771, ss123123662, ss152795994, ss159911098, ss169571411, ss170390541 NT_004487.19:54398959:G:A NC_000001.11:202941189:G:A (self)
Help

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

2 citations for rs10581
PMID Title Author Year Journal
17216283 Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations. Collins SC et al. 2007 Diabetologia
24967709 Identification of susceptibility variants in ADIPOR1 gene associated with type 2 diabetes, coronary artery disease and the comorbidity of type 2 diabetes and coronary artery disease. Jin Z et al. 2014 PloS one
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.post761+d5e8e07