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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.

rs780171750

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:1353231 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000016 (4/244154, GnomAD_exome)
T=0.000036 (4/112436, ExAC)
T=0.00000 (0/10680, ALFA)
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 10680 C=1.00000 T=0.00000
European Sub 6962 C=1.0000 T=0.0000
African Sub 2294 C=1.0000 T=0.0000
African Others Sub 84 C=1.00 T=0.00
African American Sub 2210 C=1.0000 T=0.0000
Asian Sub 108 C=1.000 T=0.000
East Asian Sub 84 C=1.00 T=0.00
Other Asian Sub 24 C=1.00 T=0.00
Latin American 1 Sub 146 C=1.000 T=0.000
Latin American 2 Sub 610 C=1.000 T=0.000
South Asian Sub 94 C=1.00 T=0.00
Other Sub 466 C=1.000 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 - Exomes Global Study-wide 244154 C=0.999984 T=0.000016
gnomAD - Exomes European Sub 130588 C=0.999992 T=0.000008
gnomAD - Exomes Asian Sub 48516 C=0.99994 T=0.00006
gnomAD - Exomes American Sub 34324 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 14888 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9854 C=1.0000 T=0.0000
gnomAD - Exomes Other Sub 5984 C=1.0000 T=0.0000
ExAC Global Study-wide 112436 C=0.999964 T=0.000036
ExAC Europe Sub 67302 C=0.99999 T=0.00001
ExAC Asian Sub 24612 C=0.99988 T=0.00012
ExAC American Sub 11208 C=1.00000 T=0.00000
ExAC African Sub 8498 C=1.0000 T=0.0000
ExAC Other Sub 816 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 10680 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 6962 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2294 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 466 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 T=0.00
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 4 NC_000004.12:g.1353231C>T
GRCh37.p13 chr 4 NC_000004.11:g.1347019C>T
UVSSA RefSeqGene NG_032753.1:g.10916C>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.752C>T P [CCC] > L [CTC] Coding Sequence Variant
UV-stimulated scaffold protein A NP_065945.2:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
UVSSA transcript variant 2 NM_001317934.2:c.752C>T P [CCC] > L [CTC] Coding Sequence Variant
UV-stimulated scaffold protein A NP_001304863.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
UVSSA transcript variant 3 NM_001317935.2:c.752C>T P [CCC] > L [CTC] Coding Sequence Variant
UV-stimulated scaffold protein A NP_001304864.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
UVSSA transcript variant X19 XM_017008500.1:c. N/A Genic Upstream Transcript Variant
UVSSA transcript variant X20 XM_024454162.2:c. N/A Genic Upstream Transcript Variant
UVSSA transcript variant X6 XM_017008490.1:c.752C>T P [CCC] > L [CTC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X2 XP_016863979.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
UVSSA transcript variant X9 XM_017008495.2:c.464C>T P [CCC] > L [CTC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X3 XP_016863984.1:p.Pro155Leu P (Pro) > L (Leu) Missense Variant
UVSSA transcript variant X3 XM_047416025.1:c.752C>T P [CCC] > L [CTC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X1 XP_047271981.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
UVSSA transcript variant X4 XM_047416026.1:c.752C>T P [CCC] > L [CTC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X1 XP_047271982.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
UVSSA transcript variant X5 XM_017008492.3:c.752C>T P [CCC] > L [CTC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X2 XP_016863981.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
UVSSA transcript variant X7 XM_017008494.3:c.752C>T P [CCC] > L [CTC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X2 XP_016863983.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
UVSSA transcript variant X8 XM_017008493.3:c.752C>T P [CCC] > L [CTC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X2 XP_016863982.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
UVSSA transcript variant X10 XM_017008496.2:c.752C>T P [CCC] > L [CTC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X4 XP_016863985.2:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
UVSSA transcript variant X14 XM_047416027.1:c.410C>T P [CCC] > L [CTC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X5 XP_047271983.1:p.Pro137Leu P (Pro) > L (Leu) Missense Variant
UVSSA transcript variant X15 XM_017008497.3:c.752C>T P [CCC] > L [CTC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X6 XP_016863986.2:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
UVSSA transcript variant X16 XM_017008498.3:c.752C>T P [CCC] > L [CTC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X7 XP_016863987.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
UVSSA transcript variant X17 XM_017008499.2:c.752C>T P [CCC] > L [CTC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X8 XP_016863988.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
UVSSA transcript variant X18 XM_047416028.1:c.752C>T P [CCC] > L [CTC] Coding Sequence Variant
UV-stimulated scaffold protein A isoform X9 XP_047271984.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
UVSSA transcript variant X1 XR_007057948.1:n.1015C>T N/A Non Coding Transcript Variant
UVSSA transcript variant X2 XR_007057949.1:n.1015C>T N/A Non Coding Transcript Variant
UVSSA transcript variant X11 XR_001741303.2:n.1015C>T N/A Non Coding Transcript Variant
UVSSA transcript variant X12 XR_001741302.2:n.1015C>T N/A Non Coding Transcript Variant
UVSSA transcript variant X13 XR_001741304.2:n.1015C>T N/A Non Coding 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 C= T
GRCh38.p14 chr 4 NC_000004.12:g.1353231= NC_000004.12:g.1353231C>T
GRCh37.p13 chr 4 NC_000004.11:g.1347019= NC_000004.11:g.1347019C>T
UVSSA RefSeqGene NG_032753.1:g.10916= NG_032753.1:g.10916C>T
UVSSA transcript variant 1 NM_020894.4:c.752= NM_020894.4:c.752C>T
UVSSA transcript variant 1 NM_020894.3:c.752= NM_020894.3:c.752C>T
UVSSA transcript NM_020894.2:c.752= NM_020894.2:c.752C>T
UVSSA transcript variant 3 NM_001317935.2:c.752= NM_001317935.2:c.752C>T
UVSSA transcript variant 3 NM_001317935.1:c.752= NM_001317935.1:c.752C>T
UVSSA transcript variant 2 NM_001317934.2:c.752= NM_001317934.2:c.752C>T
UVSSA transcript variant 2 NM_001317934.1:c.752= NM_001317934.1:c.752C>T
UVSSA transcript variant X8 XM_017008493.3:c.752= XM_017008493.3:c.752C>T
UVSSA transcript variant X7 XM_017008493.2:c.752= XM_017008493.2:c.752C>T
UVSSA transcript variant X8 XM_017008493.1:c.752= XM_017008493.1:c.752C>T
UVSSA transcript variant X5 XM_017008492.3:c.752= XM_017008492.3:c.752C>T
UVSSA transcript variant X8 XM_017008492.2:c.752= XM_017008492.2:c.752C>T
UVSSA transcript variant X7 XM_017008492.1:c.752= XM_017008492.1:c.752C>T
UVSSA transcript variant X7 XM_017008494.3:c.752= XM_017008494.3:c.752C>T
UVSSA transcript variant X9 XM_017008494.2:c.752= XM_017008494.2:c.752C>T
UVSSA transcript variant X9 XM_017008494.1:c.752= XM_017008494.1:c.752C>T
UVSSA transcript variant X16 XM_017008498.3:c.752= XM_017008498.3:c.752C>T
UVSSA transcript variant X16 XM_017008498.2:c.752= XM_017008498.2:c.752C>T
UVSSA transcript variant X16 XM_017008498.1:c.752= XM_017008498.1:c.752C>T
UVSSA transcript variant X15 XM_017008497.3:c.752= XM_017008497.3:c.752C>T
UVSSA transcript variant X15 XM_017008497.2:c.1079= XM_017008497.2:c.1079C>T
UVSSA transcript variant X15 XM_017008497.1:c.1079= XM_017008497.1:c.1079C>T
UVSSA transcript variant X10 XM_017008496.2:c.752= XM_017008496.2:c.752C>T
UVSSA transcript variant X11 XM_017008496.1:c.1079= XM_017008496.1:c.1079C>T
UVSSA transcript variant X13 XR_001741304.2:n.1015= XR_001741304.2:n.1015C>T
UVSSA transcript variant X14 XR_001741304.1:n.1523= XR_001741304.1:n.1523C>T
UVSSA transcript variant X11 XR_001741303.2:n.1015= XR_001741303.2:n.1015C>T
UVSSA transcript variant X13 XR_001741303.1:n.1523= XR_001741303.1:n.1523C>T
UVSSA transcript variant X12 XR_001741302.2:n.1015= XR_001741302.2:n.1015C>T
UVSSA transcript variant X12 XR_001741302.1:n.1523= XR_001741302.1:n.1523C>T
UVSSA transcript variant X9 XM_017008495.2:c.464= XM_017008495.2:c.464C>T
UVSSA transcript variant X10 XM_017008495.1:c.464= XM_017008495.1:c.464C>T
UVSSA transcript variant X17 XM_017008499.2:c.752= XM_017008499.2:c.752C>T
UVSSA transcript variant X17 XM_017008499.1:c.752= XM_017008499.1:c.752C>T
UVSSA transcript variant X1 XR_007057948.1:n.1015= XR_007057948.1:n.1015C>T
UVSSA transcript variant X2 XR_007057949.1:n.1015= XR_007057949.1:n.1015C>T
UVSSA transcript variant X14 XM_047416027.1:c.410= XM_047416027.1:c.410C>T
UVSSA transcript variant X6 XM_017008490.1:c.752= XM_017008490.1:c.752C>T
UVSSA transcript variant X3 XM_047416025.1:c.752= XM_047416025.1:c.752C>T
UVSSA transcript variant X4 XM_047416026.1:c.752= XM_047416026.1:c.752C>T
UVSSA transcript variant X18 XM_047416028.1:c.752= XM_047416028.1:c.752C>T
UV-stimulated scaffold protein A NP_065945.2:p.Pro251= NP_065945.2:p.Pro251Leu
UV-stimulated scaffold protein A NP_001304864.1:p.Pro251= NP_001304864.1:p.Pro251Leu
UV-stimulated scaffold protein A NP_001304863.1:p.Pro251= NP_001304863.1:p.Pro251Leu
UV-stimulated scaffold protein A isoform X2 XP_016863982.1:p.Pro251= XP_016863982.1:p.Pro251Leu
UV-stimulated scaffold protein A isoform X2 XP_016863981.1:p.Pro251= XP_016863981.1:p.Pro251Leu
UV-stimulated scaffold protein A isoform X2 XP_016863983.1:p.Pro251= XP_016863983.1:p.Pro251Leu
UV-stimulated scaffold protein A isoform X7 XP_016863987.1:p.Pro251= XP_016863987.1:p.Pro251Leu
UV-stimulated scaffold protein A isoform X6 XP_016863986.2:p.Pro251= XP_016863986.2:p.Pro251Leu
UV-stimulated scaffold protein A isoform X4 XP_016863985.2:p.Pro251= XP_016863985.2:p.Pro251Leu
UV-stimulated scaffold protein A isoform X3 XP_016863984.1:p.Pro155= XP_016863984.1:p.Pro155Leu
UV-stimulated scaffold protein A isoform X8 XP_016863988.1:p.Pro251= XP_016863988.1:p.Pro251Leu
UV-stimulated scaffold protein A isoform X5 XP_047271983.1:p.Pro137= XP_047271983.1:p.Pro137Leu
UV-stimulated scaffold protein A isoform X2 XP_016863979.1:p.Pro251= XP_016863979.1:p.Pro251Leu
UV-stimulated scaffold protein A isoform X1 XP_047271981.1:p.Pro251= XP_047271981.1:p.Pro251Leu
UV-stimulated scaffold protein A isoform X1 XP_047271982.1:p.Pro251= XP_047271982.1:p.Pro251Leu
UV-stimulated scaffold protein A isoform X9 XP_047271984.1:p.Pro251= XP_047271984.1:p.Pro251Leu
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#.

3 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1687385593 Apr 01, 2015 (144)
2 GNOMAD ss2734340619 Nov 08, 2017 (151)
3 EVA ss5346356670 Oct 13, 2022 (156)
4 ExAC NC_000004.11 - 1347019 Oct 12, 2018 (152)
5 gnomAD - Exomes NC_000004.11 - 1347019 Jul 13, 2019 (153)
6 ALFA NC_000004.12 - 1353231 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
7341196, 3440306, ss1687385593, ss2734340619, ss5346356670 NC_000004.11:1347018:C:T NC_000004.12:1353230:C:T (self)
165219915 NC_000004.12:1353230:C:T NC_000004.12:1353230:C: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 rs780171750

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