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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.

rs2877890

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:58730524 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.012781 (3383/264690, TOPMED)
G=0.012034 (1687/140182, GnomAD)
G=0.00971 (140/14420, ALFA) (+ 4 more)
G=0.0147 (94/6404, 1000G_30x)
G=0.0130 (65/5008, 1000G)
G=0.022 (7/322, HapMap)
G=0.005 (1/216, Qatari)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RAD51C : Intron Variant
LOC105371843 : 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 14420 T=0.99029 G=0.00971
European Sub 9824 T=0.9999 G=0.0001
African Sub 2946 T=0.9555 G=0.0445
African Others Sub 114 T=0.956 G=0.044
African American Sub 2832 T=0.9555 G=0.0445
Asian Sub 112 T=1.000 G=0.000
East Asian Sub 86 T=1.00 G=0.00
Other Asian Sub 26 T=1.00 G=0.00
Latin American 1 Sub 146 T=0.979 G=0.021
Latin American 2 Sub 610 T=0.998 G=0.002
South Asian Sub 98 T=1.00 G=0.00
Other Sub 684 T=0.994 G=0.006


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=0.987219 G=0.012781
gnomAD - Genomes Global Study-wide 140182 T=0.987966 G=0.012034
gnomAD - Genomes European Sub 75944 T=0.99997 G=0.00003
gnomAD - Genomes African Sub 42004 T=0.96127 G=0.03873
gnomAD - Genomes American Sub 13628 T=0.99677 G=0.00323
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3130 T=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2152 T=0.9935 G=0.0065
Allele Frequency Aggregator Total Global 14420 T=0.99029 G=0.00971
Allele Frequency Aggregator European Sub 9824 T=0.9999 G=0.0001
Allele Frequency Aggregator African Sub 2946 T=0.9555 G=0.0445
Allele Frequency Aggregator Other Sub 684 T=0.994 G=0.006
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.998 G=0.002
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.979 G=0.021
Allele Frequency Aggregator Asian Sub 112 T=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 G=0.00
1000Genomes_30x Global Study-wide 6404 T=0.9853 G=0.0147
1000Genomes_30x African Sub 1786 T=0.9502 G=0.0498
1000Genomes_30x Europe Sub 1266 T=1.0000 G=0.0000
1000Genomes_30x South Asian Sub 1202 T=1.0000 G=0.0000
1000Genomes_30x East Asian Sub 1170 T=1.0000 G=0.0000
1000Genomes_30x American Sub 980 T=0.995 G=0.005
1000Genomes Global Study-wide 5008 T=0.9870 G=0.0130
1000Genomes African Sub 1322 T=0.9516 G=0.0484
1000Genomes East Asian Sub 1008 T=1.0000 G=0.0000
1000Genomes Europe Sub 1006 T=1.0000 G=0.0000
1000Genomes South Asian Sub 978 T=1.000 G=0.000
1000Genomes American Sub 694 T=0.999 G=0.001
HapMap Global Study-wide 322 T=0.978 G=0.022
HapMap American Sub 118 T=1.000 G=0.000
HapMap African Sub 114 T=0.939 G=0.061
HapMap Asian Sub 90 T=1.00 G=0.00
Qatari Global Study-wide 216 T=0.995 G=0.005
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 17 NC_000017.11:g.58730524T>G
GRCh37.p13 chr 17 NC_000017.10:g.56807885T>G
RAD51C RefSeqGene (LRG_314) NG_023199.1:g.42923T>G
Gene: RAD51C, RAD51 paralog C (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RAD51C transcript variant 1 NM_058216.3:c.966-1960T>G N/A Intron Variant
RAD51C transcript variant 2 NM_002876.4:c. N/A Genic Downstream Transcript Variant
RAD51C transcript variant 3 NR_103872.2:n. N/A Intron Variant
RAD51C transcript variant 4 NR_103873.1:n. N/A Genic Downstream Transcript Variant
RAD51C transcript variant X1 XM_006722001.5:c.966-1957…

XM_006722001.5:c.966-1957T>G

N/A Intron Variant
RAD51C transcript variant X2 XM_006722002.5:c.905-1960…

XM_006722002.5:c.905-1960T>G

N/A Intron Variant
RAD51C transcript variant X4 XM_006722004.4:c.615-1957…

XM_006722004.4:c.615-1957T>G

N/A Intron Variant
RAD51C transcript variant X3 XM_011525094.3:c.615-1957…

XM_011525094.3:c.615-1957T>G

N/A Intron Variant
RAD51C transcript variant X5 XM_047436505.1:c. N/A Genic Downstream Transcript Variant
Gene: LOC105371843, uncharacterized LOC105371843 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105371843 transcript variant X1 XR_007065865.1:n. N/A Intron Variant
LOC105371843 transcript variant X2 XR_007065866.1:n. N/A Intron 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 T= G
GRCh38.p14 chr 17 NC_000017.11:g.58730524= NC_000017.11:g.58730524T>G
GRCh37.p13 chr 17 NC_000017.10:g.56807885= NC_000017.10:g.56807885T>G
RAD51C RefSeqGene (LRG_314) NG_023199.1:g.42923= NG_023199.1:g.42923T>G
RAD51C transcript variant 1 NM_058216.2:c.966-1960= NM_058216.2:c.966-1960T>G
RAD51C transcript variant 1 NM_058216.3:c.966-1960= NM_058216.3:c.966-1960T>G
RAD51C transcript variant X1 XM_006722001.5:c.966-1957= XM_006722001.5:c.966-1957T>G
RAD51C transcript variant X2 XM_006722002.5:c.905-1960= XM_006722002.5:c.905-1960T>G
RAD51C transcript variant X4 XM_006722004.4:c.615-1957= XM_006722004.4:c.615-1957T>G
RAD51C transcript variant X3 XM_011525094.3:c.615-1957= XM_011525094.3:c.615-1957T>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#.

18 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss4068776 Nov 05, 2001 (101)
2 PERLEGEN ss23792079 Sep 20, 2004 (123)
3 ABI ss40843678 Mar 15, 2006 (126)
4 1000GENOMES ss227600190 Jul 14, 2010 (132)
5 1000GENOMES ss1359088212 Aug 21, 2014 (142)
6 HAMMER_LAB ss1808829824 Sep 08, 2015 (146)
7 WEILL_CORNELL_DGM ss1936680005 Feb 12, 2016 (147)
8 HUMAN_LONGEVITY ss2217720806 Dec 20, 2016 (150)
9 GNOMAD ss2951144580 Nov 08, 2017 (151)
10 KHV_HUMAN_GENOMES ss3820062930 Jul 13, 2019 (153)
11 TOPMED ss5039828245 Apr 27, 2021 (155)
12 1000G_HIGH_COVERAGE ss5303520040 Oct 16, 2022 (156)
13 EVA ss5428294224 Oct 16, 2022 (156)
14 HUGCELL_USP ss5496528571 Oct 16, 2022 (156)
15 1000G_HIGH_COVERAGE ss5607431054 Oct 16, 2022 (156)
16 SANFORD_IMAGENETICS ss5660318293 Oct 16, 2022 (156)
17 EVA ss5914370117 Oct 16, 2022 (156)
18 EVA ss5951713156 Oct 16, 2022 (156)
19 1000Genomes NC_000017.10 - 56807885 Oct 12, 2018 (152)
20 1000Genomes_30x NC_000017.11 - 58730524 Oct 16, 2022 (156)
21 gnomAD - Genomes NC_000017.11 - 58730524 Apr 27, 2021 (155)
22 HapMap NC_000017.11 - 58730524 Apr 27, 2020 (154)
23 Qatari NC_000017.10 - 56807885 Apr 27, 2020 (154)
24 TopMed NC_000017.11 - 58730524 Apr 27, 2021 (155)
25 ALFA NC_000017.11 - 58730524 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
72346317, 18721927, ss227600190, ss1359088212, ss1808829824, ss1936680005, ss2951144580, ss5428294224, ss5660318293, ss5951713156 NC_000017.10:56807884:T:G NC_000017.11:58730523:T:G (self)
94956989, 510486041, 1507870, 255373907, 3662299612, ss2217720806, ss3820062930, ss5039828245, ss5303520040, ss5496528571, ss5607431054, ss5914370117 NC_000017.11:58730523:T:G NC_000017.11:58730523:T:G (self)
ss4068776, ss23792079, ss40843678 NT_010783.15:22082036:T:G NC_000017.11:58730523: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 rs2877890

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