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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.

rs4473921

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:23202372 (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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.092768 (12997/140102, GnomAD)
G=0.02760 (780/28258, 14KJPN)
G=0.03036 (527/17356, ALFA) (+ 16 more)
G=0.02793 (468/16758, 8.3KJPN)
G=0.1010 (647/6404, 1000G_30x)
G=0.1004 (503/5008, 1000G)
G=0.0558 (250/4480, Estonian)
G=0.0400 (154/3854, ALSPAC)
G=0.0440 (163/3708, TWINSUK)
G=0.0218 (64/2930, KOREAN)
G=0.0240 (44/1832, Korea1K)
G=0.032 (32/998, GoNL)
G=0.065 (39/600, NorthernSweden)
G=0.116 (25/216, Qatari)
G=0.019 (4/214, Vietnamese)
T=0.43 (26/60, SGDP_PRJ)
G=0.10 (4/40, GENOME_DK)
T=0.5 (2/4, Siberian)
G=0.5 (2/4, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 17356 T=0.96964 C=0.00000, G=0.03036
European Sub 13778 T=0.97264 C=0.00000, G=0.02736
African Sub 2120 T=0.9368 C=0.0000, G=0.0632
African Others Sub 76 T=0.91 C=0.00, G=0.09
African American Sub 2044 T=0.9379 C=0.0000, G=0.0621
Asian Sub 110 T=1.000 C=0.000, G=0.000
East Asian Sub 84 T=1.00 C=0.00, G=0.00
Other Asian Sub 26 T=1.00 C=0.00, G=0.00
Latin American 1 Sub 122 T=1.000 C=0.000, G=0.000
Latin American 2 Sub 530 T=1.000 C=0.000, G=0.000
South Asian Sub 82 T=0.99 C=0.00, G=0.01
Other Sub 614 T=0.976 C=0.000, G=0.024


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 - Genomes Global Study-wide 140102 T=0.907232 G=0.092768
gnomAD - Genomes European Sub 75906 T=0.95098 G=0.04902
gnomAD - Genomes African Sub 41954 T=0.81139 G=0.18861
gnomAD - Genomes American Sub 13640 T=0.93094 G=0.06906
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.9338 G=0.0662
gnomAD - Genomes East Asian Sub 3132 T=0.9920 G=0.0080
gnomAD - Genomes Other Sub 2148 T=0.9181 G=0.0819
14KJPN JAPANESE Study-wide 28258 T=0.97240 G=0.02760
Allele Frequency Aggregator Total Global 17356 T=0.96964 C=0.00000, G=0.03036
Allele Frequency Aggregator European Sub 13778 T=0.97264 C=0.00000, G=0.02736
Allele Frequency Aggregator African Sub 2120 T=0.9368 C=0.0000, G=0.0632
Allele Frequency Aggregator Other Sub 614 T=0.976 C=0.000, G=0.024
Allele Frequency Aggregator Latin American 2 Sub 530 T=1.000 C=0.000, G=0.000
Allele Frequency Aggregator Latin American 1 Sub 122 T=1.000 C=0.000, G=0.000
Allele Frequency Aggregator Asian Sub 110 T=1.000 C=0.000, G=0.000
Allele Frequency Aggregator South Asian Sub 82 T=0.99 C=0.00, G=0.01
8.3KJPN JAPANESE Study-wide 16758 T=0.97207 G=0.02793
1000Genomes_30x Global Study-wide 6404 T=0.8990 G=0.1010
1000Genomes_30x African Sub 1786 T=0.7872 G=0.2128
1000Genomes_30x Europe Sub 1266 T=0.9581 G=0.0419
1000Genomes_30x South Asian Sub 1202 T=0.9027 G=0.0973
1000Genomes_30x East Asian Sub 1170 T=0.9872 G=0.0128
1000Genomes_30x American Sub 980 T=0.916 G=0.084
1000Genomes Global Study-wide 5008 T=0.8996 G=0.1004
1000Genomes African Sub 1322 T=0.7821 G=0.2179
1000Genomes East Asian Sub 1008 T=0.9871 G=0.0129
1000Genomes Europe Sub 1006 T=0.9533 G=0.0467
1000Genomes South Asian Sub 978 T=0.901 G=0.099
1000Genomes American Sub 694 T=0.916 G=0.084
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9442 G=0.0558
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9600 G=0.0400
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9560 G=0.0440
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.9782 G=0.0218
Korean Genome Project KOREAN Study-wide 1832 T=0.9760 G=0.0240
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.968 G=0.032
Northern Sweden ACPOP Study-wide 600 T=0.935 G=0.065
Qatari Global Study-wide 216 T=0.884 G=0.116
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.981 G=0.019
SGDP_PRJ Global Study-wide 60 T=0.43 G=0.57
The Danish reference pan genome Danish Study-wide 40 T=0.90 G=0.10
Siberian Global Study-wide 4 T=0.5 G=0.5
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 7 NC_000007.14:g.23202372T>C
GRCh38.p14 chr 7 NC_000007.14:g.23202372T>G
GRCh37.p13 chr 7 NC_000007.13:g.23241991T>C
GRCh37.p13 chr 7 NC_000007.13:g.23241991T>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
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= C G
GRCh38.p14 chr 7 NC_000007.14:g.23202372= NC_000007.14:g.23202372T>C NC_000007.14:g.23202372T>G
GRCh37.p13 chr 7 NC_000007.13:g.23241991= NC_000007.13:g.23241991T>C NC_000007.13:g.23241991T>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#.

46 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss6012793 Feb 20, 2003 (111)
2 COMPLETE_GENOMICS ss163823872 Jul 04, 2010 (132)
3 BUSHMAN ss203072456 Jul 04, 2010 (132)
4 1000GENOMES ss333970443 May 09, 2011 (134)
5 TISHKOFF ss559867178 Apr 25, 2013 (138)
6 SSMP ss654219766 Apr 25, 2013 (138)
7 EVA-GONL ss984049757 Aug 21, 2014 (142)
8 1000GENOMES ss1324295523 Aug 21, 2014 (142)
9 EVA_GENOME_DK ss1582111038 Apr 01, 2015 (144)
10 EVA_DECODE ss1593618296 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1617766836 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1660760869 Apr 01, 2015 (144)
13 HAMMER_LAB ss1804911184 Sep 08, 2015 (146)
14 WEILL_CORNELL_DGM ss1927295535 Feb 12, 2016 (147)
15 GENOMED ss1970648437 Jul 19, 2016 (147)
16 JJLAB ss2024324142 Sep 14, 2016 (149)
17 USC_VALOUEV ss2152520115 Dec 20, 2016 (150)
18 HUMAN_LONGEVITY ss2292421111 Dec 20, 2016 (150)
19 GRF ss2708176541 Nov 08, 2017 (151)
20 GNOMAD ss2850782947 Nov 08, 2017 (151)
21 SWEGEN ss3000773267 Nov 08, 2017 (151)
22 CSHL ss3347481946 Nov 08, 2017 (151)
23 EGCUT_WGS ss3668701536 Jul 13, 2019 (153)
24 EVA_DECODE ss3719279102 Jul 13, 2019 (153)
25 ACPOP ss3734440121 Jul 13, 2019 (153)
26 EVA ss3766300730 Jul 13, 2019 (153)
27 KHV_HUMAN_GENOMES ss3809468125 Jul 13, 2019 (153)
28 EVA ss3830463653 Apr 26, 2020 (154)
29 SGDP_PRJ ss3866825252 Apr 26, 2020 (154)
30 KRGDB ss3913861093 Apr 26, 2020 (154)
31 KOGIC ss3961051895 Apr 26, 2020 (154)
32 TOPMED ss4738737500 Apr 26, 2021 (155)
33 TOPMED ss4738737501 Apr 26, 2021 (155)
34 TOMMO_GENOMICS ss5182211448 Apr 26, 2021 (155)
35 1000G_HIGH_COVERAGE ss5272147177 Oct 14, 2022 (156)
36 EVA ss5372226917 Oct 14, 2022 (156)
37 HUGCELL_USP ss5469400106 Oct 14, 2022 (156)
38 EVA ss5508880203 Oct 14, 2022 (156)
39 1000G_HIGH_COVERAGE ss5559951407 Oct 14, 2022 (156)
40 SANFORD_IMAGENETICS ss5642531073 Oct 14, 2022 (156)
41 TOMMO_GENOMICS ss5721776506 Oct 14, 2022 (156)
42 YY_MCH ss5808415673 Oct 14, 2022 (156)
43 EVA ss5822533032 Oct 14, 2022 (156)
44 EVA ss5855803677 Oct 14, 2022 (156)
45 EVA ss5858072015 Oct 14, 2022 (156)
46 EVA ss5971730057 Oct 14, 2022 (156)
47 1000Genomes NC_000007.13 - 23241991 Oct 12, 2018 (152)
48 1000Genomes_30x NC_000007.14 - 23202372 Oct 14, 2022 (156)
49 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 23241991 Oct 12, 2018 (152)
50 Genetic variation in the Estonian population NC_000007.13 - 23241991 Oct 12, 2018 (152)
51 The Danish reference pan genome NC_000007.13 - 23241991 Apr 26, 2020 (154)
52 gnomAD - Genomes NC_000007.14 - 23202372 Apr 26, 2021 (155)
53 Genome of the Netherlands Release 5 NC_000007.13 - 23241991 Apr 26, 2020 (154)
54 KOREAN population from KRGDB NC_000007.13 - 23241991 Apr 26, 2020 (154)
55 Korean Genome Project NC_000007.14 - 23202372 Apr 26, 2020 (154)
56 Northern Sweden NC_000007.13 - 23241991 Jul 13, 2019 (153)
57 Qatari NC_000007.13 - 23241991 Apr 26, 2020 (154)
58 SGDP_PRJ NC_000007.13 - 23241991 Apr 26, 2020 (154)
59 Siberian NC_000007.13 - 23241991 Apr 26, 2020 (154)
60 8.3KJPN NC_000007.13 - 23241991 Apr 26, 2021 (155)
61 14KJPN NC_000007.14 - 23202372 Oct 14, 2022 (156)
62 TopMed

Submission ignored due to conflicting rows:
Row 576115059 (NC_000007.14:23202371:T:C 1/264690)
Row 576115060 (NC_000007.14:23202371:T:G 24268/264690)

- Apr 26, 2021 (155)
63 TopMed

Submission ignored due to conflicting rows:
Row 576115059 (NC_000007.14:23202371:T:C 1/264690)
Row 576115060 (NC_000007.14:23202371:T:G 24268/264690)

- Apr 26, 2021 (155)
64 UK 10K study - Twins NC_000007.13 - 23241991 Oct 12, 2018 (152)
65 A Vietnamese Genetic Variation Database NC_000007.13 - 23241991 Jul 13, 2019 (153)
66 ALFA NC_000007.14 - 23202372 Apr 26, 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
14036257792, ss4738737500 NC_000007.14:23202371:T:C NC_000007.14:23202371:T:C (self)
ss163823872, ss203072456, ss1593618296 NC_000007.12:23208515:T:G NC_000007.14:23202371:T:G (self)
36235957, 20200026, 14439784, 8275977, 9005778, 21038487, 7724986, 9337465, 18842232, 5036469, 40180755, 20200026, 4500912, ss333970443, ss559867178, ss654219766, ss984049757, ss1324295523, ss1582111038, ss1617766836, ss1660760869, ss1804911184, ss1927295535, ss1970648437, ss2024324142, ss2152520115, ss2708176541, ss2850782947, ss3000773267, ss3347481946, ss3668701536, ss3734440121, ss3766300730, ss3830463653, ss3866825252, ss3913861093, ss5182211448, ss5372226917, ss5508880203, ss5642531073, ss5822533032, ss5971730057 NC_000007.13:23241990:T:G NC_000007.14:23202371:T:G (self)
47477342, 255503411, 17429896, 55613610, 14036257792, ss2292421111, ss3719279102, ss3809468125, ss3961051895, ss4738737501, ss5272147177, ss5469400106, ss5559951407, ss5721776506, ss5808415673, ss5855803677, ss5858072015 NC_000007.14:23202371:T:G NC_000007.14:23202371:T:G (self)
ss6012793 NT_007819.17:23231990:T:G NC_000007.14:23202371:T:G (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 rs4473921

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