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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.

rs8105431

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:14824079 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.486917 (128882/264690, TOPMED)
G=0.480293 (67192/139898, GnomAD)
A=0.39713 (11222/28258, 14KJPN) (+ 18 more)
G=0.43068 (10698/24840, ALFA)
A=0.39553 (6629/16760, 8.3KJPN)
A=0.4410 (2824/6404, 1000G_30x)
A=0.4409 (2208/5008, 1000G)
G=0.4105 (1839/4480, Estonian)
G=0.3913 (1508/3854, ALSPAC)
G=0.4021 (1491/3708, TWINSUK)
A=0.3375 (989/2930, KOREAN)
A=0.4577 (865/1890, HapMap)
A=0.3548 (650/1832, Korea1K)
G=0.419 (418/998, GoNL)
G=0.476 (298/626, Chileans)
G=0.452 (271/600, NorthernSweden)
A=0.230 (98/426, SGDP_PRJ)
G=0.458 (99/216, Qatari)
A=0.285 (61/214, Vietnamese)
A=0.29 (12/42, Siberian)
G=0.38 (15/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
OR7C1 : Intron Variant
Publications
0 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 24840 A=0.56932 C=0.00000, G=0.43068
European Sub 16982 A=0.60364 C=0.00000, G=0.39636
African Sub 3186 A=0.4118 C=0.0000, G=0.5882
African Others Sub 108 A=0.389 C=0.000, G=0.611
African American Sub 3078 A=0.4126 C=0.0000, G=0.5874
Asian Sub 160 A=0.219 C=0.000, G=0.781
East Asian Sub 102 A=0.255 C=0.000, G=0.745
Other Asian Sub 58 A=0.16 C=0.00, G=0.84
Latin American 1 Sub 292 A=0.568 C=0.000, G=0.432
Latin American 2 Sub 2768 A=0.5813 C=0.0000, G=0.4187
South Asian Sub 110 A=0.427 C=0.000, G=0.573
Other Sub 1342 A=0.5380 C=0.0000, G=0.4620


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 A=0.513083 G=0.486917
gnomAD - Genomes Global Study-wide 139898 A=0.519707 G=0.480293
gnomAD - Genomes European Sub 75790 A=0.59653 G=0.40347
gnomAD - Genomes African Sub 41894 A=0.38433 G=0.61567
gnomAD - Genomes American Sub 13622 A=0.55102 G=0.44898
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.5713 G=0.4287
gnomAD - Genomes East Asian Sub 3120 A=0.2721 G=0.7279
gnomAD - Genomes Other Sub 2150 A=0.5307 G=0.4693
14KJPN JAPANESE Study-wide 28258 A=0.39713 G=0.60287
Allele Frequency Aggregator Total Global 24840 A=0.56932 C=0.00000, G=0.43068
Allele Frequency Aggregator European Sub 16982 A=0.60364 C=0.00000, G=0.39636
Allele Frequency Aggregator African Sub 3186 A=0.4118 C=0.0000, G=0.5882
Allele Frequency Aggregator Latin American 2 Sub 2768 A=0.5813 C=0.0000, G=0.4187
Allele Frequency Aggregator Other Sub 1342 A=0.5380 C=0.0000, G=0.4620
Allele Frequency Aggregator Latin American 1 Sub 292 A=0.568 C=0.000, G=0.432
Allele Frequency Aggregator Asian Sub 160 A=0.219 C=0.000, G=0.781
Allele Frequency Aggregator South Asian Sub 110 A=0.427 C=0.000, G=0.573
8.3KJPN JAPANESE Study-wide 16760 A=0.39553 G=0.60447
1000Genomes_30x Global Study-wide 6404 A=0.4410 G=0.5590
1000Genomes_30x African Sub 1786 A=0.3757 G=0.6243
1000Genomes_30x Europe Sub 1266 A=0.6011 G=0.3989
1000Genomes_30x South Asian Sub 1202 A=0.3968 G=0.6032
1000Genomes_30x East Asian Sub 1170 A=0.3094 G=0.6906
1000Genomes_30x American Sub 980 A=0.564 G=0.436
1000Genomes Global Study-wide 5008 A=0.4409 G=0.5591
1000Genomes African Sub 1322 A=0.3782 G=0.6218
1000Genomes East Asian Sub 1008 A=0.3194 G=0.6806
1000Genomes Europe Sub 1006 A=0.6083 G=0.3917
1000Genomes South Asian Sub 978 A=0.385 G=0.615
1000Genomes American Sub 694 A=0.572 G=0.428
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.5895 G=0.4105
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6087 G=0.3913
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.5979 G=0.4021
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.3375 C=0.0000, G=0.6625, T=0.0000
HapMap Global Study-wide 1890 A=0.4577 G=0.5423
HapMap American Sub 770 A=0.431 G=0.569
HapMap African Sub 692 A=0.488 G=0.512
HapMap Asian Sub 252 A=0.369 G=0.631
HapMap Europe Sub 176 A=0.580 G=0.420
Korean Genome Project KOREAN Study-wide 1832 A=0.3548 G=0.6452
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.581 G=0.419
Chileans Chilean Study-wide 626 A=0.524 G=0.476
Northern Sweden ACPOP Study-wide 600 A=0.548 G=0.452
SGDP_PRJ Global Study-wide 426 A=0.230 G=0.770
Qatari Global Study-wide 216 A=0.542 G=0.458
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.285 G=0.715
Siberian Global Study-wide 42 A=0.29 G=0.71
The Danish reference pan genome Danish Study-wide 40 A=0.62 G=0.38
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 19 NC_000019.10:g.14824079A>C
GRCh38.p14 chr 19 NC_000019.10:g.14824079A>G
GRCh38.p14 chr 19 NC_000019.10:g.14824079A>T
GRCh37.p13 chr 19 NC_000019.9:g.14934891A>C
GRCh37.p13 chr 19 NC_000019.9:g.14934891A>G
GRCh37.p13 chr 19 NC_000019.9:g.14934891A>T
Gene: OR7C1, olfactory receptor family 7 subfamily C member 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
OR7C1 transcript variant 1 NM_001370485.4:c.-623+109…

NM_001370485.4:c.-623+10995T>G

N/A Intron Variant
OR7C1 transcript variant 2 NM_198944.1:c. N/A Genic Upstream Transcript 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 A= C G T
GRCh38.p14 chr 19 NC_000019.10:g.14824079= NC_000019.10:g.14824079A>C NC_000019.10:g.14824079A>G NC_000019.10:g.14824079A>T
GRCh37.p13 chr 19 NC_000019.9:g.14934891= NC_000019.9:g.14934891A>C NC_000019.9:g.14934891A>G NC_000019.9:g.14934891A>T
OR7C1 transcript variant 1 NM_001370485.4:c.-623+10995= NM_001370485.4:c.-623+10995T>G NM_001370485.4:c.-623+10995T>C NM_001370485.4:c.-623+10995T>A
OR7C1 transcript variant X1 XM_005259853.1:c.-202+10995= XM_005259853.1:c.-202+10995T>G XM_005259853.1:c.-202+10995T>C XM_005259853.1:c.-202+10995T>A
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#.

70 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12459352 Jul 11, 2003 (116)
2 BCM_SSAHASNP ss14706074 Dec 05, 2003 (119)
3 AFFY ss66036224 Jul 04, 2010 (132)
4 AFFY ss75924934 Dec 08, 2007 (130)
5 HGSV ss78055201 Dec 07, 2007 (129)
6 HGSV ss81133979 Dec 15, 2007 (130)
7 KRIBB_YJKIM ss82549820 Dec 14, 2007 (130)
8 BGI ss103425228 Dec 01, 2009 (131)
9 1000GENOMES ss111112007 Jan 25, 2009 (130)
10 1000GENOMES ss114875061 Jan 25, 2009 (130)
11 GMI ss155642921 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss167850191 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss169156350 Jul 04, 2010 (132)
14 AFFY ss169199687 Jul 04, 2010 (132)
15 BUSHMAN ss203680317 Jul 04, 2010 (132)
16 BCM-HGSC-SUB ss208456216 Jul 04, 2010 (132)
17 1000GENOMES ss228054063 Jul 14, 2010 (132)
18 1000GENOMES ss237611540 Jul 15, 2010 (132)
19 1000GENOMES ss243831660 Jul 15, 2010 (132)
20 BL ss255511251 May 09, 2011 (134)
21 GMI ss283134833 May 04, 2012 (137)
22 GMI ss287349963 Apr 25, 2013 (138)
23 PJP ss292216668 May 09, 2011 (134)
24 TISHKOFF ss565873255 Apr 25, 2013 (138)
25 SSMP ss661729361 Apr 25, 2013 (138)
26 EVA-GONL ss994120079 Aug 21, 2014 (142)
27 JMKIDD_LAB ss1081778700 Aug 21, 2014 (142)
28 1000GENOMES ss1362481116 Aug 21, 2014 (142)
29 DDI ss1428344820 Apr 01, 2015 (144)
30 EVA_GENOME_DK ss1578567732 Apr 01, 2015 (144)
31 EVA_UK10K_ALSPAC ss1637625020 Apr 01, 2015 (144)
32 EVA_UK10K_TWINSUK ss1680619053 Apr 01, 2015 (144)
33 EVA_DECODE ss1698179725 Apr 01, 2015 (144)
34 EVA_SVP ss1713652508 Apr 01, 2015 (144)
35 HAMMER_LAB ss1809223660 Sep 08, 2015 (146)
36 WEILL_CORNELL_DGM ss1937605642 Feb 12, 2016 (147)
37 GENOMED ss1968609518 Jul 19, 2016 (147)
38 JJLAB ss2029574437 Sep 14, 2016 (149)
39 USC_VALOUEV ss2158101016 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2224545925 Dec 20, 2016 (150)
41 SYSTEMSBIOZJU ss2629286245 Nov 08, 2017 (151)
42 GRF ss2702705433 Nov 08, 2017 (151)
43 GNOMAD ss2960849710 Nov 08, 2017 (151)
44 SWEGEN ss3017157412 Nov 08, 2017 (151)
45 BIOINF_KMB_FNS_UNIBA ss3028619501 Nov 08, 2017 (151)
46 CSHL ss3352212773 Nov 08, 2017 (151)
47 EGCUT_WGS ss3683981270 Jul 13, 2019 (153)
48 EVA_DECODE ss3702413964 Jul 13, 2019 (153)
49 ACPOP ss3742883464 Jul 13, 2019 (153)
50 EVA ss3755849668 Jul 13, 2019 (153)
51 KHV_HUMAN_GENOMES ss3821104815 Jul 13, 2019 (153)
52 EVA ss3835368621 Apr 27, 2020 (154)
53 EVA ss3841304224 Apr 27, 2020 (154)
54 EVA ss3846808861 Apr 27, 2020 (154)
55 SGDP_PRJ ss3887838353 Apr 27, 2020 (154)
56 KRGDB ss3937828380 Apr 27, 2020 (154)
57 KOGIC ss3980921294 Apr 27, 2020 (154)
58 TOPMED ss5069072238 Apr 27, 2021 (155)
59 TOMMO_GENOMICS ss5226914614 Apr 27, 2021 (155)
60 1000G_HIGH_COVERAGE ss5306620299 Oct 16, 2022 (156)
61 HUGCELL_USP ss5499230654 Oct 16, 2022 (156)
62 EVA ss5512046214 Oct 16, 2022 (156)
63 1000G_HIGH_COVERAGE ss5612066865 Oct 16, 2022 (156)
64 SANFORD_IMAGENETICS ss5662043665 Oct 16, 2022 (156)
65 TOMMO_GENOMICS ss5785255465 Oct 16, 2022 (156)
66 YY_MCH ss5817437197 Oct 16, 2022 (156)
67 EVA ss5840302363 Oct 16, 2022 (156)
68 EVA ss5852217362 Oct 16, 2022 (156)
69 EVA ss5927426345 Oct 16, 2022 (156)
70 EVA ss5953462481 Oct 16, 2022 (156)
71 1000Genomes NC_000019.9 - 14934891 Oct 12, 2018 (152)
72 1000Genomes_30x NC_000019.10 - 14824079 Oct 16, 2022 (156)
73 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 14934891 Oct 12, 2018 (152)
74 Chileans NC_000019.9 - 14934891 Apr 27, 2020 (154)
75 Genetic variation in the Estonian population NC_000019.9 - 14934891 Oct 12, 2018 (152)
76 The Danish reference pan genome NC_000019.9 - 14934891 Apr 27, 2020 (154)
77 gnomAD - Genomes NC_000019.10 - 14824079 Apr 27, 2021 (155)
78 Genome of the Netherlands Release 5 NC_000019.9 - 14934891 Apr 27, 2020 (154)
79 HapMap NC_000019.10 - 14824079 Apr 27, 2020 (154)
80 KOREAN population from KRGDB NC_000019.9 - 14934891 Apr 27, 2020 (154)
81 Korean Genome Project NC_000019.10 - 14824079 Apr 27, 2020 (154)
82 Northern Sweden NC_000019.9 - 14934891 Jul 13, 2019 (153)
83 Qatari NC_000019.9 - 14934891 Apr 27, 2020 (154)
84 SGDP_PRJ NC_000019.9 - 14934891 Apr 27, 2020 (154)
85 Siberian NC_000019.9 - 14934891 Apr 27, 2020 (154)
86 8.3KJPN NC_000019.9 - 14934891 Apr 27, 2021 (155)
87 14KJPN NC_000019.10 - 14824079 Oct 16, 2022 (156)
88 TopMed NC_000019.10 - 14824079 Apr 27, 2021 (155)
89 UK 10K study - Twins NC_000019.9 - 14934891 Oct 12, 2018 (152)
90 A Vietnamese Genetic Variation Database NC_000019.9 - 14934891 Jul 13, 2019 (153)
91 ALFA NC_000019.10 - 14824079 Apr 27, 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)
rs56537031 May 26, 2008 (130)
rs57335319 Feb 27, 2009 (130)
rs60935959 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
45005774, ss3937828380 NC_000019.9:14934890:A:C NC_000019.10:14824078:A:C (self)
14408262963 NC_000019.10:14824078:A:C NC_000019.10:14824078:A:C (self)
ss66036224 NT_011295.12:14764078:A:C NC_000019.10:14824078:A:C (self)
ss78055201, ss81133979, ss111112007, ss114875061, ss167850191, ss169156350, ss203680317, ss208456216, ss255511251, ss283134833, ss287349963, ss292216668, ss1698179725, ss1713652508 NC_000019.8:14795890:A:G NC_000019.10:14824078:A:G (self)
75863702, 42028379, 202695, 29719518, 4753026, 18723109, 45005774, 16168329, 19647564, 39855333, 10617370, 84883921, 42028379, 9288673, ss228054063, ss237611540, ss243831660, ss565873255, ss661729361, ss994120079, ss1081778700, ss1362481116, ss1428344820, ss1578567732, ss1637625020, ss1680619053, ss1809223660, ss1937605642, ss1968609518, ss2029574437, ss2158101016, ss2629286245, ss2702705433, ss2960849710, ss3017157412, ss3352212773, ss3683981270, ss3742883464, ss3755849668, ss3835368621, ss3841304224, ss3887838353, ss3937828380, ss5226914614, ss5512046214, ss5662043665, ss5840302363, ss5953462481 NC_000019.9:14934890:A:G NC_000019.10:14824078:A:G (self)
99592800, 535053046, 1671369, 37299295, 119092569, 284617902, 14408262963, ss2224545925, ss3028619501, ss3702413964, ss3821104815, ss3846808861, ss3980921294, ss5069072238, ss5306620299, ss5499230654, ss5612066865, ss5785255465, ss5817437197, ss5852217362, ss5927426345 NC_000019.10:14824078:A:G NC_000019.10:14824078:A:G (self)
ss12459352, ss14706074 NT_011295.10:6197692:A:G NC_000019.10:14824078:A:G (self)
ss75924934, ss82549820, ss103425228, ss155642921, ss169199687 NT_011295.11:6197692:A:G NC_000019.10:14824078:A:G (self)
45005774, ss3937828380 NC_000019.9:14934890:A:T NC_000019.10:14824078:A:T (self)
ss66036224 NT_011295.12:14764078:A:T NC_000019.10:14824078:A:T (self)
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 rs8105431

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