Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs372810026

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:1383874 (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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000021 (3/140266, GnomAD)
A=0.00000 (0/14048, ALFA)
T=0.00000 (0/14048, ALFA) (+ 1 more)
T=0.00008 (1/13006, GO-ESP)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
UVSSA : Missense 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 14048 G=1.00000 A=0.00000, T=0.00000
European Sub 9690 G=1.0000 A=0.0000, T=0.0000
African Sub 2896 G=1.0000 A=0.0000, T=0.0000
African Others Sub 114 G=1.000 A=0.000, T=0.000
African American Sub 2782 G=1.0000 A=0.0000, T=0.0000
Asian Sub 112 G=1.000 A=0.000, T=0.000
East Asian Sub 86 G=1.00 A=0.00, T=0.00
Other Asian Sub 26 G=1.00 A=0.00, T=0.00
Latin American 1 Sub 146 G=1.000 A=0.000, T=0.000
Latin American 2 Sub 610 G=1.000 A=0.000, T=0.000
South Asian Sub 98 G=1.00 A=0.00, T=0.00
Other Sub 496 G=1.000 A=0.000, T=0.000


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
gnomAD - Genomes Global Study-wide 140266 G=0.999979 T=0.000021
gnomAD - Genomes European Sub 75950 G=1.00000 T=0.00000
gnomAD - Genomes African Sub 42048 G=0.99993 T=0.00007
gnomAD - Genomes American Sub 13668 G=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3124 G=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2154 G=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 14048 G=1.00000 A=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 9690 G=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2896 G=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Other Sub 496 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00, T=0.00
GO Exome Sequencing Project Global Study-wide 13006 G=0.99992 T=0.00008
GO Exome Sequencing Project European American Sub 8600 G=1.0000 T=0.0000
GO Exome Sequencing Project African American Sub 4406 G=0.9998 T=0.0002
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 4 NC_000004.12:g.1383874G>A
GRCh38.p14 chr 4 NC_000004.12:g.1383874G>T
GRCh37.p13 chr 4 NC_000004.11:g.1377662G>A
GRCh37.p13 chr 4 NC_000004.11:g.1377662G>T
UVSSA RefSeqGene NG_032753.1:g.41559G>A
UVSSA RefSeqGene NG_032753.1:g.41559G>T
Gene: UVSSA, UV stimulated scaffold protein A (plus strand)
Molecule type Change Amino acid[Codon] SO Term
UVSSA transcript variant 1 NM_020894.4:c.1970G>A S [AGC] > N [AAC] Coding Sequence Variant
UV-stimulated scaffold protein A NP_065945.2:p.Ser657Asn S (Ser) > N (Asn) Missense Variant
UVSSA transcript variant 1 NM_020894.4:c.1970G>T S [AGC] > I [ATC] Coding Sequence Variant
UV-stimulated scaffold protein A NP_065945.2:p.Ser657Ile S (Ser) > I (Ile) Missense Variant
UVSSA transcript variant 2 NM_001317934.2:c.1970G>A S [AGC] > N [AAC] Coding Sequence Variant
UV-stimulated scaffold protein A NP_001304863.1:p.Ser657Asn S (Ser) > N (Asn) Missense Variant
UVSSA transcript variant 2 NM_001317934.2:c.1970G>T S [AGC] > I [ATC] Coding Sequence Variant
UV-stimulated scaffold protein A NP_001304863.1:p.Ser657Ile S (Ser) > I (Ile) Missense Variant
UVSSA transcript variant 3 NM_001317935.2:c.1970G>A S [AGC] > N [AAC] Coding Sequence Variant
UV-stimulated scaffold protein A NP_001304864.1:p.Ser657Asn S (Ser) > N (Asn) Missense Variant
UVSSA transcript variant 3 NM_001317935.2:c.1970G>T S [AGC] > I [ATC] Coding Sequence Variant
UV-stimulated scaffold protein A NP_001304864.1:p.Ser657Ile S (Ser) > I (Ile) Missense Variant
UVSSA transcript variant X10 XM_017008496.2:c. N/A Genic Downstream Transcript Variant
UVSSA transcript variant X15 XM_017008497.3:c. N/A Genic Downstream Transcript Variant
UVSSA transcript variant X16 XM_017008498.3:c. N/A Genic Downstream Transcript Variant
UVSSA transcript variant X17 XM_017008499.2:c. N/A Genic Downstream Transcript Variant
UVSSA transcript variant X3 XM_047416025.1:c. N/A Genic Downstream Transcript Variant
UVSSA transcript variant X4 XM_047416026.1:c. N/A Genic Downstream Transcript Variant
UVSSA transcript variant X18 XM_047416028.1:c. N/A Genic Downstream Transcript Variant
UVSSA transcript variant X6 XM_017008490.1:c.1970G>A S [AGC] > N [AAC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X2 XP_016863979.1:p.Ser657Asn S (Ser) > N (Asn) Missense Variant
UVSSA transcript variant X6 XM_017008490.1:c.1970G>T S [AGC] > I [ATC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X2 XP_016863979.1:p.Ser657Ile S (Ser) > I (Ile) Missense Variant
UVSSA transcript variant X19 XM_017008500.1:c.800G>A S [AGC] > N [AAC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X10 XP_016863989.1:p.Ser267Asn S (Ser) > N (Asn) Missense Variant
UVSSA transcript variant X19 XM_017008500.1:c.800G>T S [AGC] > I [ATC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X10 XP_016863989.1:p.Ser267Ile S (Ser) > I (Ile) Missense Variant
UVSSA transcript variant X9 XM_017008495.2:c.1682G>A S [AGC] > N [AAC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X3 XP_016863984.1:p.Ser561Asn S (Ser) > N (Asn) Missense Variant
UVSSA transcript variant X9 XM_017008495.2:c.1682G>T S [AGC] > I [ATC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X3 XP_016863984.1:p.Ser561Ile S (Ser) > I (Ile) Missense Variant
UVSSA transcript variant X5 XM_017008492.3:c.1970G>A S [AGC] > N [AAC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X2 XP_016863981.1:p.Ser657Asn S (Ser) > N (Asn) Missense Variant
UVSSA transcript variant X5 XM_017008492.3:c.1970G>T S [AGC] > I [ATC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X2 XP_016863981.1:p.Ser657Ile S (Ser) > I (Ile) Missense Variant
UVSSA transcript variant X7 XM_017008494.3:c.1970G>A S [AGC] > N [AAC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X2 XP_016863983.1:p.Ser657Asn S (Ser) > N (Asn) Missense Variant
UVSSA transcript variant X7 XM_017008494.3:c.1970G>T S [AGC] > I [ATC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X2 XP_016863983.1:p.Ser657Ile S (Ser) > I (Ile) Missense Variant
UVSSA transcript variant X8 XM_017008493.3:c.1970G>A S [AGC] > N [AAC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X2 XP_016863982.1:p.Ser657Asn S (Ser) > N (Asn) Missense Variant
UVSSA transcript variant X8 XM_017008493.3:c.1970G>T S [AGC] > I [ATC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X2 XP_016863982.1:p.Ser657Ile S (Ser) > I (Ile) Missense Variant
UVSSA transcript variant X14 XM_047416027.1:c.1628G>A S [AGC] > N [AAC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X5 XP_047271983.1:p.Ser543Asn S (Ser) > N (Asn) Missense Variant
UVSSA transcript variant X14 XM_047416027.1:c.1628G>T S [AGC] > I [ATC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X5 XP_047271983.1:p.Ser543Ile S (Ser) > I (Ile) Missense Variant
UVSSA transcript variant X20 XM_024454162.2:c.623G>A S [AGC] > N [AAC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X11 XP_024309930.1:p.Ser208Asn S (Ser) > N (Asn) Missense Variant
UVSSA transcript variant X20 XM_024454162.2:c.623G>T S [AGC] > I [ATC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X11 XP_024309930.1:p.Ser208Ile S (Ser) > I (Ile) Missense Variant
UVSSA transcript variant X1 XR_007057948.1:n.2233G>A N/A Non Coding Transcript Variant
UVSSA transcript variant X1 XR_007057948.1:n.2233G>T N/A Non Coding Transcript Variant
UVSSA transcript variant X2 XR_007057949.1:n.2233G>A N/A Non Coding Transcript Variant
UVSSA transcript variant X2 XR_007057949.1:n.2233G>T N/A Non Coding Transcript Variant
UVSSA transcript variant X12 XR_001741302.2:n. N/A Genic Downstream Transcript Variant
UVSSA transcript variant X11 XR_001741303.2:n. N/A Genic Downstream Transcript Variant
UVSSA transcript variant X13 XR_001741304.2:n. N/A Genic Downstream 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 G= A T
GRCh38.p14 chr 4 NC_000004.12:g.1383874= NC_000004.12:g.1383874G>A NC_000004.12:g.1383874G>T
GRCh37.p13 chr 4 NC_000004.11:g.1377662= NC_000004.11:g.1377662G>A NC_000004.11:g.1377662G>T
UVSSA RefSeqGene NG_032753.1:g.41559= NG_032753.1:g.41559G>A NG_032753.1:g.41559G>T
UVSSA transcript variant 1 NM_020894.4:c.1970= NM_020894.4:c.1970G>A NM_020894.4:c.1970G>T
UVSSA transcript variant 1 NM_020894.3:c.1970= NM_020894.3:c.1970G>A NM_020894.3:c.1970G>T
UVSSA transcript NM_020894.2:c.1970= NM_020894.2:c.1970G>A NM_020894.2:c.1970G>T
UVSSA transcript variant 3 NM_001317935.2:c.1970= NM_001317935.2:c.1970G>A NM_001317935.2:c.1970G>T
UVSSA transcript variant 3 NM_001317935.1:c.1970= NM_001317935.1:c.1970G>A NM_001317935.1:c.1970G>T
UVSSA transcript variant 2 NM_001317934.2:c.1970= NM_001317934.2:c.1970G>A NM_001317934.2:c.1970G>T
UVSSA transcript variant 2 NM_001317934.1:c.1970= NM_001317934.1:c.1970G>A NM_001317934.1:c.1970G>T
UVSSA transcript variant X8 XM_017008493.3:c.1970= XM_017008493.3:c.1970G>A XM_017008493.3:c.1970G>T
UVSSA transcript variant X7 XM_017008493.2:c.1970= XM_017008493.2:c.1970G>A XM_017008493.2:c.1970G>T
UVSSA transcript variant X8 XM_017008493.1:c.1970= XM_017008493.1:c.1970G>A XM_017008493.1:c.1970G>T
UVSSA transcript variant X5 XM_017008492.3:c.1970= XM_017008492.3:c.1970G>A XM_017008492.3:c.1970G>T
UVSSA transcript variant X8 XM_017008492.2:c.1970= XM_017008492.2:c.1970G>A XM_017008492.2:c.1970G>T
UVSSA transcript variant X7 XM_017008492.1:c.1970= XM_017008492.1:c.1970G>A XM_017008492.1:c.1970G>T
UVSSA transcript variant X7 XM_017008494.3:c.1970= XM_017008494.3:c.1970G>A XM_017008494.3:c.1970G>T
UVSSA transcript variant X9 XM_017008494.2:c.1970= XM_017008494.2:c.1970G>A XM_017008494.2:c.1970G>T
UVSSA transcript variant X9 XM_017008494.1:c.1970= XM_017008494.1:c.1970G>A XM_017008494.1:c.1970G>T
UVSSA transcript variant X9 XM_017008495.2:c.1682= XM_017008495.2:c.1682G>A XM_017008495.2:c.1682G>T
UVSSA transcript variant X10 XM_017008495.1:c.1682= XM_017008495.1:c.1682G>A XM_017008495.1:c.1682G>T
UVSSA transcript variant X20 XM_024454162.2:c.623= XM_024454162.2:c.623G>A XM_024454162.2:c.623G>T
UVSSA transcript variant X20 XM_024454162.1:c.623= XM_024454162.1:c.623G>A XM_024454162.1:c.623G>T
UVSSA transcript variant X1 XR_007057948.1:n.2233= XR_007057948.1:n.2233G>A XR_007057948.1:n.2233G>T
UVSSA transcript variant X2 XR_007057949.1:n.2233= XR_007057949.1:n.2233G>A XR_007057949.1:n.2233G>T
UVSSA transcript variant X14 XM_047416027.1:c.1628= XM_047416027.1:c.1628G>A XM_047416027.1:c.1628G>T
UVSSA transcript variant X6 XM_017008490.1:c.1970= XM_017008490.1:c.1970G>A XM_017008490.1:c.1970G>T
UVSSA transcript variant X19 XM_017008500.1:c.800= XM_017008500.1:c.800G>A XM_017008500.1:c.800G>T
UV-stimulated scaffold protein A NP_065945.2:p.Ser657= NP_065945.2:p.Ser657Asn NP_065945.2:p.Ser657Ile
UV-stimulated scaffold protein A NP_001304864.1:p.Ser657= NP_001304864.1:p.Ser657Asn NP_001304864.1:p.Ser657Ile
UV-stimulated scaffold protein A NP_001304863.1:p.Ser657= NP_001304863.1:p.Ser657Asn NP_001304863.1:p.Ser657Ile
UV-stimulated scaffold protein A isoform X2 XP_016863982.1:p.Ser657= XP_016863982.1:p.Ser657Asn XP_016863982.1:p.Ser657Ile
UV-stimulated scaffold protein A isoform X2 XP_016863981.1:p.Ser657= XP_016863981.1:p.Ser657Asn XP_016863981.1:p.Ser657Ile
UV-stimulated scaffold protein A isoform X2 XP_016863983.1:p.Ser657= XP_016863983.1:p.Ser657Asn XP_016863983.1:p.Ser657Ile
UV-stimulated scaffold protein A isoform X3 XP_016863984.1:p.Ser561= XP_016863984.1:p.Ser561Asn XP_016863984.1:p.Ser561Ile
UV-stimulated scaffold protein A isoform X11 XP_024309930.1:p.Ser208= XP_024309930.1:p.Ser208Asn XP_024309930.1:p.Ser208Ile
UV-stimulated scaffold protein A isoform X5 XP_047271983.1:p.Ser543= XP_047271983.1:p.Ser543Asn XP_047271983.1:p.Ser543Ile
UV-stimulated scaffold protein A isoform X2 XP_016863979.1:p.Ser657= XP_016863979.1:p.Ser657Asn XP_016863979.1:p.Ser657Ile
UV-stimulated scaffold protein A isoform X10 XP_016863989.1:p.Ser267= XP_016863989.1:p.Ser267Asn XP_016863989.1:p.Ser267Ile
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#.

6 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss712577818 Apr 25, 2013 (138)
2 GNOMAD ss2747185146 Nov 08, 2017 (151)
3 GNOMAD ss2804663995 Nov 08, 2017 (151)
4 EVA ss3823993368 Apr 25, 2020 (154)
5 TOPMED ss4600103014 Apr 26, 2021 (155)
6 TOPMED ss4600103015 Apr 26, 2021 (155)
7 gnomAD - Genomes NC_000004.12 - 1383874 Apr 26, 2021 (155)
8 GO Exome Sequencing Project NC_000004.11 - 1377662 Oct 12, 2018 (152)
9 TopMed

Submission ignored due to conflicting rows:
Row 437480570 (NC_000004.12:1383873:G:A 2/264690)
Row 437480571 (NC_000004.12:1383873:G:T 3/264690)

- Apr 26, 2021 (155)
10 TopMed

Submission ignored due to conflicting rows:
Row 437480570 (NC_000004.12:1383873:G:A 2/264690)
Row 437480571 (NC_000004.12:1383873:G:T 3/264690)

- Apr 26, 2021 (155)
11 ALFA NC_000004.12 - 1383874 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
5237955881, ss4600103014 NC_000004.12:1383873:G:A NC_000004.12:1383873:G:A (self)
451622, ss712577818, ss2747185146, ss2804663995, ss3823993368 NC_000004.11:1377661:G:T NC_000004.12:1383873:G:T (self)
137847039, 5237955881, ss4600103015 NC_000004.12:1383873:G:T NC_000004.12:1383873:G: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 rs372810026

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