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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.

rs10907182

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:1131023 (GRCh38.p13) 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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.463863 (122780/264690, TOPMED)
T=0.419381 (64323/153376, ALFA)
T=0.475051 (66338/139644, GnomAD) (+ 15 more)
T=0.49145 (37926/77172, PAGE_STUDY)
T=0.43699 (7323/16758, 8.3KJPN)
T=0.4730 (2369/5008, 1000G)
T=0.4562 (2044/4480, Estonian)
T=0.3915 (1509/3854, ALSPAC)
T=0.4013 (1488/3708, TWINSUK)
T=0.4553 (1334/2930, KOREAN)
C=0.4885 (677/1386, HapMap)
T=0.413 (412/998, GoNL)
T=0.400 (293/732, PRJEB37584)
T=0.402 (241/600, NorthernSweden)
T=0.269 (125/464, SGDP_PRJ)
T=0.472 (102/216, Qatari)
T=0.19 (8/42, Siberian)
T=0.38 (15/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.1131023T>A
GRCh38.p13 chr 1 NC_000001.11:g.1131023T>C
GRCh38.p13 chr 1 NC_000001.11:g.1131023T>G
GRCh37.p13 chr 1 NC_000001.10:g.1066403T>A
GRCh37.p13 chr 1 NC_000001.10:g.1066403T>C
GRCh37.p13 chr 1 NC_000001.10:g.1066403T>G
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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 153376 T=0.419381 A=0.000000, C=0.580619, G=0.000000
European Sub 138890 T=0.412442 A=0.000000, C=0.587558, G=0.000000
African Sub 4416 T=0.7135 A=0.0000, C=0.2865, G=0.0000
African Others Sub 158 T=0.747 A=0.000, C=0.253, G=0.000
African American Sub 4258 T=0.7123 A=0.0000, C=0.2877, G=0.0000
Asian Sub 438 T=0.482 A=0.000, C=0.518, G=0.000
East Asian Sub 392 T=0.485 A=0.000, C=0.515, G=0.000
Other Asian Sub 46 T=0.46 A=0.00, C=0.54, G=0.00
Latin American 1 Sub 462 T=0.485 A=0.000, C=0.515, G=0.000
Latin American 2 Sub 4294 T=0.3121 A=0.0000, C=0.6879, G=0.0000
South Asian Sub 90 T=0.49 A=0.00, C=0.51, G=0.00
Other Sub 4786 T=0.4323 A=0.0000, C=0.5677, G=0.0000


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 T=0.463863 C=0.536137
gnomAD - Genomes Global Study-wide 139644 T=0.475051 C=0.524949
gnomAD - Genomes European Sub 75608 T=0.42570 C=0.57430
gnomAD - Genomes African Sub 41874 T=0.61100 C=0.38900
gnomAD - Genomes American Sub 13602 T=0.34951 C=0.65049
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=0.4150 C=0.5850
gnomAD - Genomes East Asian Sub 3094 T=0.4758 C=0.5242
gnomAD - Genomes Other Sub 2148 T=0.4488 C=0.5512
The PAGE Study Global Study-wide 77172 T=0.49145 C=0.50855
The PAGE Study AfricanAmerican Sub 31932 T=0.60876 C=0.39124
The PAGE Study Mexican Sub 10582 T=0.35286 C=0.64714
The PAGE Study Asian Sub 8112 T=0.4477 C=0.5523
The PAGE Study PuertoRican Sub 7784 T=0.4305 C=0.5695
The PAGE Study NativeHawaiian Sub 4452 T=0.4234 C=0.5766
The PAGE Study Cuban Sub 4144 T=0.4233 C=0.5767
The PAGE Study Dominican Sub 3766 T=0.4881 C=0.5119
The PAGE Study CentralAmerican Sub 2384 T=0.3536 C=0.6464
The PAGE Study SouthAmerican Sub 1944 T=0.2958 C=0.7042
The PAGE Study NativeAmerican Sub 1230 T=0.4138 C=0.5862
The PAGE Study SouthAsian Sub 842 T=0.435 C=0.565
8.3KJPN JAPANESE Study-wide 16758 T=0.43699 C=0.56301
1000Genomes Global Study-wide 5008 T=0.4730 C=0.5270
1000Genomes African Sub 1322 T=0.6755 C=0.3245
1000Genomes East Asian Sub 1008 T=0.4504 C=0.5496
1000Genomes Europe Sub 1006 T=0.3966 C=0.6034
1000Genomes South Asian Sub 978 T=0.421 C=0.579
1000Genomes American Sub 694 T=0.304 C=0.696
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4562 C=0.5437
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.3915 C=0.6085
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.4013 C=0.5987
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.4553 C=0.5447
HapMap Global Study-wide 1386 T=0.5115 C=0.4885
HapMap American Sub 558 T=0.425 C=0.575
HapMap African Sub 404 T=0.681 C=0.319
HapMap Asian Sub 254 T=0.492 C=0.508
HapMap Europe Sub 170 T=0.424 C=0.576
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.413 C=0.587
CNV burdens in cranial meningiomas Global Study-wide 732 T=0.400 C=0.600
CNV burdens in cranial meningiomas CRM Sub 732 T=0.400 C=0.600
Northern Sweden ACPOP Study-wide 600 T=0.402 C=0.598
SGDP_PRJ Global Study-wide 464 T=0.269 C=0.731
Qatari Global Study-wide 216 T=0.472 C=0.528
Siberian Global Study-wide 42 T=0.19 C=0.81
The Danish reference pan genome Danish Study-wide 40 T=0.38 C=0.62
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 T= A C G
GRCh38.p13 chr 1 NC_000001.11:g.1131023= NC_000001.11:g.1131023T>A NC_000001.11:g.1131023T>C NC_000001.11:g.1131023T>G
GRCh37.p13 chr 1 NC_000001.10:g.1066403= NC_000001.10:g.1066403T>A NC_000001.10:g.1066403T>C NC_000001.10:g.1066403T>G
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#.

97 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17361449 Feb 27, 2004 (120)
2 SC_SNP ss18281150 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss19136002 Feb 27, 2004 (120)
4 SSAHASNP ss20565539 Apr 05, 2004 (121)
5 ABI ss41240020 Mar 14, 2006 (126)
6 PERLEGEN ss68756321 May 18, 2007 (127)
7 ILLUMINA ss75074819 Dec 06, 2007 (129)
8 HGSV ss78289499 Dec 06, 2007 (129)
9 BCMHGSC_JDW ss87158269 Mar 23, 2008 (129)
10 ILLUMINA-UK ss118440240 Feb 14, 2009 (130)
11 KRIBB_YJKIM ss119649763 Dec 01, 2009 (131)
12 ENSEMBL ss131634480 Dec 01, 2009 (131)
13 ENSEMBL ss137754466 Dec 01, 2009 (131)
14 GMI ss154528190 Dec 01, 2009 (131)
15 ILLUMINA ss159937030 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss162983594 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss163707761 Jul 04, 2010 (132)
18 ILLUMINA ss170736176 Jul 04, 2010 (132)
19 1000GENOMES ss210449622 Jul 14, 2010 (132)
20 1000GENOMES ss218191998 Jul 14, 2010 (132)
21 1000GENOMES ss230396486 Jul 14, 2010 (132)
22 1000GENOMES ss238116036 Jul 15, 2010 (132)
23 BL ss252866319 May 09, 2011 (134)
24 GMI ss275682506 May 04, 2012 (137)
25 GMI ss283988019 Apr 25, 2013 (138)
26 PJP ss290494381 May 09, 2011 (134)
27 ILLUMINA ss479399795 May 04, 2012 (137)
28 ILLUMINA ss479403018 May 04, 2012 (137)
29 ILLUMINA ss479814173 Sep 08, 2015 (146)
30 ILLUMINA ss484499869 May 04, 2012 (137)
31 TISHKOFF ss553713751 Apr 25, 2013 (138)
32 SSMP ss647518504 Apr 25, 2013 (138)
33 ILLUMINA ss782696476 Aug 21, 2014 (142)
34 ILLUMINA ss831947526 Apr 01, 2015 (144)
35 EVA-GONL ss974772140 Aug 21, 2014 (142)
36 JMKIDD_LAB ss1067613775 Aug 21, 2014 (142)
37 1000GENOMES ss1289350859 Aug 21, 2014 (142)
38 DDI ss1425685904 Apr 01, 2015 (144)
39 EVA_GENOME_DK ss1573852080 Apr 01, 2015 (144)
40 EVA_DECODE ss1584132063 Apr 01, 2015 (144)
41 EVA_UK10K_ALSPAC ss1599382851 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1642376884 Apr 01, 2015 (144)
43 EVA_SVP ss1712305557 Apr 01, 2015 (144)
44 ILLUMINA ss1751861021 Sep 08, 2015 (146)
45 HAMMER_LAB ss1793717253 Sep 08, 2015 (146)
46 WEILL_CORNELL_DGM ss1917964052 Feb 12, 2016 (147)
47 ILLUMINA ss1945981813 Feb 12, 2016 (147)
48 ILLUMINA ss1958230813 Feb 12, 2016 (147)
49 JJLAB ss2019499911 Sep 14, 2016 (149)
50 USC_VALOUEV ss2147486698 Dec 20, 2016 (150)
51 HUMAN_LONGEVITY ss2159387341 Dec 20, 2016 (150)
52 TOPMED ss2321526618 Dec 20, 2016 (150)
53 SYSTEMSBIOZJU ss2624265580 Nov 08, 2017 (151)
54 ILLUMINA ss2632465761 Nov 08, 2017 (151)
55 GRF ss2697377619 Nov 08, 2017 (151)
56 ILLUMINA ss2710663581 Nov 08, 2017 (151)
57 GNOMAD ss2750673387 Nov 08, 2017 (151)
58 SWEGEN ss2986154581 Nov 08, 2017 (151)
59 ILLUMINA ss3021043765 Nov 08, 2017 (151)
60 BIOINF_KMB_FNS_UNIBA ss3023514337 Nov 08, 2017 (151)
61 TOPMED ss3066475664 Nov 08, 2017 (151)
62 CSHL ss3343274366 Nov 08, 2017 (151)
63 ILLUMINA ss3625523511 Oct 11, 2018 (152)
64 ILLUMINA ss3633571489 Oct 11, 2018 (152)
65 ILLUMINA ss3634302076 Oct 11, 2018 (152)
66 ILLUMINA ss3635265692 Oct 11, 2018 (152)
67 ILLUMINA ss3635978725 Oct 11, 2018 (152)
68 ILLUMINA ss3637016032 Oct 11, 2018 (152)
69 ILLUMINA ss3637732509 Oct 11, 2018 (152)
70 ILLUMINA ss3640009442 Oct 11, 2018 (152)
71 ILLUMINA ss3640973176 Oct 11, 2018 (152)
72 ILLUMINA ss3641266991 Oct 11, 2018 (152)
73 ILLUMINA ss3642746785 Oct 11, 2018 (152)
74 ILLUMINA ss3644477676 Oct 11, 2018 (152)
75 URBANLAB ss3646581972 Oct 11, 2018 (152)
76 ILLUMINA ss3651365818 Oct 11, 2018 (152)
77 EGCUT_WGS ss3654265696 Jul 12, 2019 (153)
78 EVA_DECODE ss3685998278 Jul 12, 2019 (153)
79 ACPOP ss3726718825 Jul 12, 2019 (153)
80 ILLUMINA ss3744040781 Jul 12, 2019 (153)
81 ILLUMINA ss3744603007 Jul 12, 2019 (153)
82 EVA ss3745724471 Jul 12, 2019 (153)
83 PAGE_CC ss3770778844 Jul 12, 2019 (153)
84 ILLUMINA ss3772104765 Jul 12, 2019 (153)
85 PACBIO ss3783303061 Jul 12, 2019 (153)
86 PACBIO ss3788980836 Jul 12, 2019 (153)
87 PACBIO ss3793853387 Jul 12, 2019 (153)
88 KHV_HUMAN_GENOMES ss3798747085 Jul 12, 2019 (153)
89 EVA ss3825982684 Apr 25, 2020 (154)
90 EVA ss3836379038 Apr 25, 2020 (154)
91 EVA ss3841783066 Apr 25, 2020 (154)
92 SGDP_PRJ ss3848004297 Apr 25, 2020 (154)
93 KRGDB ss3892847131 Apr 25, 2020 (154)
94 EVA ss3984450759 Apr 25, 2021 (155)
95 EVA ss4016889126 Apr 25, 2021 (155)
96 TOPMED ss4436524366 Apr 25, 2021 (155)
97 TOMMO_GENOMICS ss5142067551 Apr 25, 2021 (155)
98 1000Genomes NC_000001.10 - 1066403 Oct 11, 2018 (152)
99 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 1066403 Oct 11, 2018 (152)
100 Genetic variation in the Estonian population NC_000001.10 - 1066403 Oct 11, 2018 (152)
101 The Danish reference pan genome NC_000001.10 - 1066403 Apr 25, 2020 (154)
102 gnomAD - Genomes NC_000001.11 - 1131023 Apr 25, 2021 (155)
103 Genome of the Netherlands Release 5 NC_000001.10 - 1066403 Apr 25, 2020 (154)
104 HapMap NC_000001.11 - 1131023 Apr 25, 2020 (154)
105 KOREAN population from KRGDB NC_000001.10 - 1066403 Apr 25, 2020 (154)
106 Northern Sweden NC_000001.10 - 1066403 Jul 12, 2019 (153)
107 The PAGE Study NC_000001.11 - 1131023 Jul 12, 2019 (153)
108 CNV burdens in cranial meningiomas NC_000001.10 - 1066403 Apr 25, 2021 (155)
109 Qatari NC_000001.10 - 1066403 Apr 25, 2020 (154)
110 SGDP_PRJ NC_000001.10 - 1066403 Apr 25, 2020 (154)
111 Siberian NC_000001.10 - 1066403 Apr 25, 2020 (154)
112 8.3KJPN NC_000001.10 - 1066403 Apr 25, 2021 (155)
113 TopMed NC_000001.11 - 1131023 Apr 25, 2021 (155)
114 UK 10K study - Twins NC_000001.10 - 1066403 Oct 11, 2018 (152)
115 ALFA NC_000001.11 - 1131023 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
9441678058 NC_000001.11:1131022:T:A NC_000001.11:1131022:T:A
ss78289499 NC_000001.8:1106325:T:C NC_000001.11:1131022:T:C (self)
ss87158269, ss118440240, ss159937030, ss162983594, ss163707761, ss210449622, ss252866319, ss275682506, ss283988019, ss290494381, ss479399795, ss1584132063, ss1712305557, ss3642746785 NC_000001.9:1056265:T:C NC_000001.11:1131022:T:C (self)
15998, 5252, 3944, 1359314, 2414, 24525, 3690, 58, 5982, 21277, 3052, 36858, 5252, ss218191998, ss230396486, ss238116036, ss479403018, ss479814173, ss484499869, ss553713751, ss647518504, ss782696476, ss831947526, ss974772140, ss1067613775, ss1289350859, ss1425685904, ss1573852080, ss1599382851, ss1642376884, ss1751861021, ss1793717253, ss1917964052, ss1945981813, ss1958230813, ss2019499911, ss2147486698, ss2321526618, ss2624265580, ss2632465761, ss2697377619, ss2710663581, ss2750673387, ss2986154581, ss3021043765, ss3343274366, ss3625523511, ss3633571489, ss3634302076, ss3635265692, ss3635978725, ss3637016032, ss3637732509, ss3640009442, ss3640973176, ss3641266991, ss3644477676, ss3651365818, ss3654265696, ss3726718825, ss3744040781, ss3744603007, ss3745724471, ss3772104765, ss3783303061, ss3788980836, ss3793853387, ss3825982684, ss3836379038, ss3848004297, ss3892847131, ss3984450759, ss4016889126, ss5142067551 NC_000001.10:1066402:T:C NC_000001.11:1131022:T:C (self)
145651, 237, 313, 74149, 130701, 9441678058, ss2159387341, ss3023514337, ss3066475664, ss3646581972, ss3685998278, ss3770778844, ss3798747085, ss3841783066, ss4436524366 NC_000001.11:1131022:T:C NC_000001.11:1131022:T:C (self)
ss41240020, ss68756321, ss75074819, ss119649763, ss131634480, ss137754466, ss154528190, ss170736176 NT_004350.19:545034:T:C NC_000001.11:1131022:T:C (self)
ss17361449, ss18281150, ss19136002, ss20565539 NT_077913.2:70113:T:C NC_000001.11:1131022:T:C (self)
9441678058 NC_000001.11:1131022:T:G NC_000001.11:1131022:T:G
Help

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

No publications for rs10907182

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.post596+ae089ad