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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.

rs7992448

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:28525444 (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>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.004284 (1134/264690, TOPMED)
T=0.004512 (633/140278, GnomAD)
T=0.00000 (0/28258, 14KJPN) (+ 15 more)
T=0.00173 (30/17338, ALFA)
T=0.00000 (0/16760, 8.3KJPN)
T=0.0064 (41/6404, 1000G_30x)
T=0.0062 (31/5008, 1000G)
T=0.0000 (0/3854, ALSPAC)
T=0.0000 (0/3708, TWINSUK)
T=0.0000 (0/2930, KOREAN)
A=0.0000 (0/2930, KOREAN)
G=0.0000 (0/2930, KOREAN)
T=0.0000 (0/1832, Korea1K)
T=0.000 (0/600, NorthernSweden)
T=0.004 (2/558, SGDP_PRJ)
T=0.000 (0/216, Qatari)
T=0.00 (0/56, Siberian)
T=0.00 (0/40, GENOME_DK)
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 17338 T=0.00173 A=0.00000, C=0.99827
European Sub 13496 T=0.00000 A=0.00000, C=1.00000
African Sub 2376 T=0.0114 A=0.0000, C=0.9886
African Others Sub 90 T=0.02 A=0.00, C=0.98
African American Sub 2286 T=0.0109 A=0.0000, C=0.9891
Asian Sub 112 T=0.000 A=0.000, C=1.000
East Asian Sub 86 T=0.00 A=0.00, C=1.00
Other Asian Sub 26 T=0.00 A=0.00, C=1.00
Latin American 1 Sub 146 T=0.014 A=0.000, C=0.986
Latin American 2 Sub 610 T=0.002 A=0.000, C=0.998
South Asian Sub 98 T=0.00 A=0.00, C=1.00
Other Sub 500 T=0.000 A=0.000, C=1.000


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=0.004284 C=0.995716
gnomAD - Genomes Global Study-wide 140278 T=0.004512 C=0.995488
gnomAD - Genomes European Sub 75966 T=0.00004 C=0.99996
gnomAD - Genomes African Sub 42038 T=0.01437 C=0.98563
gnomAD - Genomes American Sub 13664 T=0.00146 C=0.99854
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.0000 C=1.0000
gnomAD - Genomes East Asian Sub 3132 T=0.0000 C=1.0000
gnomAD - Genomes Other Sub 2154 T=0.0028 C=0.9972
14KJPN JAPANESE Study-wide 28258 T=0.00000 C=1.00000
Allele Frequency Aggregator Total Global 17338 T=0.00173 A=0.00000, C=0.99827
Allele Frequency Aggregator European Sub 13496 T=0.00000 A=0.00000, C=1.00000
Allele Frequency Aggregator African Sub 2376 T=0.0114 A=0.0000, C=0.9886
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.002 A=0.000, C=0.998
Allele Frequency Aggregator Other Sub 500 T=0.000 A=0.000, C=1.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.014 A=0.000, C=0.986
Allele Frequency Aggregator Asian Sub 112 T=0.000 A=0.000, C=1.000
Allele Frequency Aggregator South Asian Sub 98 T=0.00 A=0.00, C=1.00
8.3KJPN JAPANESE Study-wide 16760 T=0.00000 C=1.00000
1000Genomes_30x Global Study-wide 6404 T=0.0064 C=0.9936
1000Genomes_30x African Sub 1786 T=0.0224 C=0.9776
1000Genomes_30x Europe Sub 1266 T=0.0008 C=0.9992
1000Genomes_30x South Asian Sub 1202 T=0.0000 C=1.0000
1000Genomes_30x East Asian Sub 1170 T=0.0000 C=1.0000
1000Genomes_30x American Sub 980 T=0.000 C=1.000
1000Genomes Global Study-wide 5008 T=0.0062 C=0.9938
1000Genomes African Sub 1322 T=0.0227 C=0.9773
1000Genomes East Asian Sub 1008 T=0.0000 C=1.0000
1000Genomes Europe Sub 1006 T=0.0010 C=0.9990
1000Genomes South Asian Sub 978 T=0.000 C=1.000
1000Genomes American Sub 694 T=0.000 C=1.000
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.0000 C=1.0000
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.0000 C=1.0000
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.0000 A=0.0000, C=1.0000, G=0.0000
Korean Genome Project KOREAN Study-wide 1832 T=0.0000 C=1.0000
Northern Sweden ACPOP Study-wide 600 T=0.000 C=1.000
SGDP_PRJ Global Study-wide 558 T=0.004 C=0.996
Qatari Global Study-wide 216 T=0.000 C=1.000
Siberian Global Study-wide 56 T=0.00 C=1.00
The Danish reference pan genome Danish Study-wide 40 T=0.00 C=1.00
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 13 NC_000013.11:g.28525444T>A
GRCh38.p14 chr 13 NC_000013.11:g.28525444T>C
GRCh38.p14 chr 13 NC_000013.11:g.28525444T>G
GRCh37.p13 chr 13 NC_000013.10:g.29099581T>A
GRCh37.p13 chr 13 NC_000013.10:g.29099581T>C
GRCh37.p13 chr 13 NC_000013.10:g.29099581T>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= A C G
GRCh38.p14 chr 13 NC_000013.11:g.28525444= NC_000013.11:g.28525444T>A NC_000013.11:g.28525444T>C NC_000013.11:g.28525444T>G
GRCh37.p13 chr 13 NC_000013.10:g.29099581= NC_000013.10:g.29099581T>A NC_000013.10:g.29099581T>C NC_000013.10:g.29099581T>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#.

63 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12249852 Jul 11, 2003 (116)
2 SC_SNP ss13157387 Apr 01, 2015 (144)
3 CSHL-HAPMAP ss17499550 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss19972650 Feb 27, 2004 (120)
5 SSAHASNP ss21133380 Apr 05, 2004 (121)
6 BCMHGSC_JDW ss89558081 Mar 24, 2008 (129)
7 1000GENOMES ss112646535 Jan 25, 2009 (130)
8 ILLUMINA-UK ss118401342 Feb 14, 2009 (130)
9 ENSEMBL ss132209703 Dec 01, 2009 (131)
10 ENSEMBL ss133503811 Dec 01, 2009 (131)
11 GMI ss154582531 Dec 01, 2009 (131)
12 1000GENOMES ss211379933 Jul 14, 2010 (132)
13 1000GENOMES ss226098745 Jul 14, 2010 (132)
14 1000GENOMES ss236190180 Jul 15, 2010 (132)
15 1000GENOMES ss242697758 Jul 15, 2010 (132)
16 BL ss254884359 May 09, 2011 (134)
17 GMI ss281652698 May 04, 2012 (137)
18 GMI ss286675095 Apr 25, 2013 (138)
19 PJP ss291564629 May 09, 2011 (134)
20 SSMP ss659166843 Apr 25, 2013 (138)
21 JMKIDD_LAB ss1078963034 Aug 21, 2014 (142)
22 1000GENOMES ss1347616759 Aug 21, 2014 (142)
23 DDI ss1427140168 Apr 01, 2015 (144)
24 EVA_GENOME_DK ss1576694423 Apr 01, 2015 (144)
25 EVA_UK10K_ALSPAC ss1629955520 Apr 01, 2015 (144)
26 EVA_UK10K_TWINSUK ss1672949553 Apr 01, 2015 (144)
27 WEILL_CORNELL_DGM ss1933596499 Feb 12, 2016 (147)
28 GENOMED ss1967743107 Jul 19, 2016 (147)
29 JJLAB ss2027553843 Sep 14, 2016 (149)
30 USC_VALOUEV ss2155918556 Dec 20, 2016 (150)
31 HUMAN_LONGEVITY ss2195096585 Dec 20, 2016 (150)
32 GRF ss2700290729 Nov 08, 2017 (151)
33 GNOMAD ss2917936058 Nov 08, 2017 (151)
34 SWEGEN ss3010773118 Nov 08, 2017 (151)
35 CSHL ss3350381535 Nov 08, 2017 (151)
36 URBANLAB ss3649996243 Oct 12, 2018 (152)
37 EVA_DECODE ss3694990181 Jul 13, 2019 (153)
38 ACPOP ss3739611704 Jul 13, 2019 (153)
39 EVA ss3751274846 Jul 13, 2019 (153)
40 PACBIO ss3787414050 Jul 13, 2019 (153)
41 PACBIO ss3792486736 Jul 13, 2019 (153)
42 PACBIO ss3797370453 Jul 13, 2019 (153)
43 KHV_HUMAN_GENOMES ss3816605884 Jul 13, 2019 (153)
44 EVA ss3833466489 Apr 27, 2020 (154)
45 EVA ss3840310353 Apr 27, 2020 (154)
46 EVA ss3845795085 Apr 27, 2020 (154)
47 SGDP_PRJ ss3879659245 Apr 27, 2020 (154)
48 KRGDB ss3928480563 Apr 27, 2020 (154)
49 KOGIC ss3973266677 Apr 27, 2020 (154)
50 TOPMED ss4940973082 Apr 26, 2021 (155)
51 TOMMO_GENOMICS ss5209313366 Apr 26, 2021 (155)
52 1000G_HIGH_COVERAGE ss5293205870 Oct 16, 2022 (156)
53 EVA ss5409800780 Oct 16, 2022 (156)
54 HUGCELL_USP ss5487622035 Oct 16, 2022 (156)
55 1000G_HIGH_COVERAGE ss5591889374 Oct 16, 2022 (156)
56 SANFORD_IMAGENETICS ss5654465074 Oct 16, 2022 (156)
57 TOMMO_GENOMICS ss5760994072 Oct 16, 2022 (156)
58 YY_MCH ss5813978192 Oct 16, 2022 (156)
59 EVA ss5839265716 Oct 16, 2022 (156)
60 EVA ss5850661588 Oct 16, 2022 (156)
61 EVA ss5924494261 Oct 16, 2022 (156)
62 EVA ss5945871302 Oct 16, 2022 (156)
63 EVA ss5980782311 Oct 16, 2022 (156)
64 1000Genomes NC_000013.10 - 29099581 Oct 12, 2018 (152)
65 1000Genomes_30x NC_000013.11 - 28525444 Oct 16, 2022 (156)
66 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 29099581 Oct 12, 2018 (152)
67 The Danish reference pan genome NC_000013.10 - 29099581 Apr 27, 2020 (154)
68 gnomAD - Genomes NC_000013.11 - 28525444 Apr 26, 2021 (155)
69 KOREAN population from KRGDB NC_000013.10 - 29099581 Apr 27, 2020 (154)
70 Korean Genome Project NC_000013.11 - 28525444 Apr 27, 2020 (154)
71 Northern Sweden NC_000013.10 - 29099581 Jul 13, 2019 (153)
72 Qatari NC_000013.10 - 29099581 Apr 27, 2020 (154)
73 SGDP_PRJ NC_000013.10 - 29099581 Apr 27, 2020 (154)
74 Siberian NC_000013.10 - 29099581 Apr 27, 2020 (154)
75 8.3KJPN NC_000013.10 - 29099581 Apr 26, 2021 (155)
76 14KJPN NC_000013.11 - 28525444 Oct 16, 2022 (156)
77 TopMed NC_000013.11 - 28525444 Apr 26, 2021 (155)
78 UK 10K study - Twins NC_000013.10 - 29099581 Oct 12, 2018 (152)
79 ALFA NC_000013.11 - 28525444 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
35657957, ss3928480563 NC_000013.10:29099580:T:A NC_000013.11:28525443:T:A (self)
10379649817 NC_000013.11:28525443:T:A NC_000013.11:28525443:T:A (self)
ss89558081, ss112646535, ss118401342, ss211379933, ss254884359, ss281652698, ss286675095, ss291564629 NC_000013.9:27997580:T:C NC_000013.11:28525443:T:C (self)
60465060, 33582178, 3234055, 35657957, 12896569, 15638429, 31676225, 8434910, 67282673, 33582178, ss226098745, ss236190180, ss242697758, ss659166843, ss1078963034, ss1347616759, ss1427140168, ss1576694423, ss1629955520, ss1672949553, ss1933596499, ss1967743107, ss2027553843, ss2155918556, ss2700290729, ss2917936058, ss3010773118, ss3350381535, ss3739611704, ss3751274846, ss3787414050, ss3792486736, ss3797370453, ss3833466489, ss3840310353, ss3879659245, ss3928480563, ss5209313366, ss5409800780, ss5654465074, ss5839265716, ss5945871302, ss5980782311 NC_000013.10:29099580:T:C NC_000013.11:28525443:T:C (self)
79415309, 426363877, 29644678, 94831176, 156518740, 10379649817, ss2195096585, ss3649996243, ss3694990181, ss3816605884, ss3845795085, ss3973266677, ss4940973082, ss5293205870, ss5487622035, ss5591889374, ss5760994072, ss5813978192, ss5850661588, ss5924494261 NC_000013.11:28525443:T:C NC_000013.11:28525443:T:C (self)
ss12249852, ss13157387 NT_009799.12:10079580:T:C NC_000013.11:28525443:T:C (self)
ss17499550, ss19972650, ss21133380 NT_024524.13:10079580:T:C NC_000013.11:28525443:T:C (self)
ss132209703, ss133503811, ss154582531 NT_024524.14:10079580:T:C NC_000013.11:28525443:T:C (self)
35657957, ss3928480563 NC_000013.10:29099580:T:G NC_000013.11:28525443: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 rs7992448

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