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dbSNP Short Genetic Variations

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.


Current Build 152

Released October 2, 2018

Homo sapiens
chr13:113118518 (GRCh38.p12) 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.

Variation Type
SNV Single Nucleotide Variation
T=0.00016 (39/243978, GnomAD)
T=0.00006 (8/125568, TOPMED)
T=0.00015 (18/118842, ExAC) (+ 2 more)
T=0.0001 (4/30930, GnomAD)
T=0.000 (1/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
F7 : Missense Variant
0 citations
Genomic View
See rs on genome

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.p12 chr 13 NC_000013.11:g.113118518C>T
GRCh37.p13 chr 13 NC_000013.10:g.113772832C>T
F10 RefSeqGene (LRG_548) NG_009258.1:g.720C>T
F7 RefSeqGene (LRG_554) NG_009262.1:g.17728C>T
Gene: F7, coagulation factor VII (plus strand)
Molecule type Change Amino acid[Codon] SO Term
F7 transcript variant 1 NM_000131.4:c.911C>T A [GCG] > V [GTG] Coding Sequence Variant
coagulation factor VII isoform a preproprotein NP_000122.1:p.Ala304Val A (Ala) > V (Val) Missense Variant
F7 transcript variant 2 NM_019616.3:c.845C>T A [GCG] > V [GTG] Coding Sequence Variant
coagulation factor VII isoform b precursor NP_062562.1:p.Ala282Val A (Ala) > V (Val) Missense Variant
F7 transcript variant 3 NM_001267554.1:c.659C>T A [GCG] > V [GTG] Coding Sequence Variant
coagulation factor VII isoform c precursor NP_001254483.1:p.Ala220Val A (Ala) > V (Val) Missense Variant
F7 transcript variant 4 NR_051961.1:n.932C>T N/A Non Coding Transcript Variant
F7 transcript variant X1 XM_011537474.2:c.998C>T A [GCG] > V [GTG] Coding Sequence Variant
coagulation factor VII isoform X1 XP_011535776.2:p.Ala333Val A (Ala) > V (Val) Missense Variant
F7 transcript variant X2 XM_011537475.2:c.812C>T A [GCG] > V [GTG] Coding Sequence Variant
coagulation factor VII isoform X2 XP_011535777.2:p.Ala271Val A (Ala) > V (Val) Missense Variant
F7 transcript variant X3 XM_006719963.3:c.749C>T A [GCG] > V [GTG] Coding Sequence Variant
coagulation factor VII isoform X3 XP_006720026.2:p.Ala250Val A (Ala) > V (Val) Missense Variant
F7 transcript variant X4 XM_011537476.2:c.605C>T A [GCG] > V [GTG] Coding Sequence Variant
coagulation factor VII isoform X4 XP_011535778.1:p.Ala202Val A (Ala) > V (Val) Missense Variant

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

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").

Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 243978 C=0.99984 T=0.00016
gnomAD - Exomes European Sub 132020 C=0.99996 T=0.00004
gnomAD - Exomes Asian Sub 47952 C=1.0000 T=0.0000
gnomAD - Exomes American Sub 33560 C=0.9992 T=0.0008
gnomAD - Exomes African Sub 15184 C=0.9999 T=0.0001
gnomAD - Exomes Ashkenazi Jewish Sub 9814 C=1.000 T=0.000
gnomAD - Exomes Other Sub 5448 C=0.999 T=0.001
TopMed Global Study-wide 125568 C=0.99994 T=0.00006
ExAC Global Study-wide 118842 C=0.99985 T=0.00015
ExAC Europe Sub 71416 C=0.9999 T=0.0001
ExAC Asian Sub 24960 C=1.0000 T=0.0000
ExAC American Sub 11482 C=0.9990 T=0.0010
ExAC African Sub 10106 C=0.9998 T=0.0002
ExAC Other Sub 878 C=1.00 T=0.00
gnomAD - Genomes Global Study-wide 30930 C=0.9999 T=0.0001
gnomAD - Genomes European Sub 18476 C=0.9999 T=0.0001
gnomAD - Genomes African Sub 8712 C=1.000 T=0.000
gnomAD - Genomes East Asian Sub 1622 C=1.000 T=0.000
gnomAD - Genomes Other Sub 980 C=1.00 T=0.00
gnomAD - Genomes American Sub 838 C=1.00 T=0.00
gnomAD - Genomes Ashkenazi Jewish Sub 302 C=1.00 T=0.00
1000Genomes Global Study-wide 5008 C=1.000 T=0.000
1000Genomes African Sub 1322 C=1.000 T=0.000
1000Genomes East Asian Sub 1008 C=1.000 T=0.000
1000Genomes Europe Sub 1006 C=1.000 T=0.000
1000Genomes South Asian Sub 978 C=1.00 T=0.00
1000Genomes American Sub 694 C=1.00 T=0.00

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 Note
GRCh38.p12 chr 13 NC_000013.11:g.113118518C= NC_000013.11:g.11311851...


GRCh37.p13 chr 13 NC_000013.10:g.113772832C= NC_000013.10:g.11377283...


F10 RefSeqGene (LRG_548) NG_009258.1:g.720C= NG_009258.1:g.720C>T
F7 RefSeqGene (LRG_554) NG_009262.1:g.17728C= NG_009262.1:g.17728C>T
F7 transcript variant 1 NM_000131.4:c.911C= NM_000131.4:c.911C>T
F7 transcript variant 2 NM_019616.3:c.845C= NM_019616.3:c.845C>T
F7 transcript variant 4 NR_051961.1:n.932C= NR_051961.1:n.932C>T
F7 transcript variant 3 NM_001267554.1:c.659C= NM_001267554.1:c.659C>T
F7 transcript variant X3 XM_006719963.3:c.749C= XM_006719963.3:c.749C>T
F7 transcript variant X4 XM_011537476.2:c.605C= XM_011537476.2:c.605C>T
F7 transcript variant X1 XM_011537474.2:c.998C= XM_011537474.2:c.998C>T
F7 transcript variant X2 XM_011537475.2:c.812C= XM_011537475.2:c.812C>T
coagulation factor VII isoform a preproprotein NP_000122.1:p.Ala304= NP_000122.1:p.Ala304Val
coagulation factor VII isoform b precursor NP_062562.1:p.Ala282= NP_062562.1:p.Ala282Val
coagulation factor VII isoform c precursor NP_001254483.1:p.Ala220= NP_001254483.1:p.Ala220Val
coagulation factor VII isoform X3 XP_006720026.2:p.Ala250= XP_006720026.2:p.Ala250Val
coagulation factor VII isoform X4 XP_011535778.1:p.Ala202= XP_011535778.1:p.Ala202Val
coagulation factor VII isoform X1 XP_011535776.2:p.Ala333= XP_011535776.2:p.Ala333Val
coagulation factor VII isoform X2 XP_011535777.2:p.Ala271= XP_011535777.2:p.Ala271Val

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#.

14 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 OMIM-CURATED-RECORDS ss288288624 Dec 21, 2010 (133)
2 NHLBI-ESP ss713162594 Apr 25, 2013 (138)
3 1000GENOMES ss1350014504 Aug 21, 2014 (142)
4 EVA_EXAC ss1691362777 Apr 01, 2015 (144)
5 ILLUMINA ss1959533110 Feb 12, 2016 (147)
6 HUMAN_LONGEVITY ss2200009417 Dec 20, 2016 (150)
7 TOPMED ss2364261900 Dec 20, 2016 (150)
8 GNOMAD ss2740527608 Nov 08, 2017 (151)
9 GNOMAD ss2749080871 Nov 08, 2017 (151)
10 GNOMAD ss2924748990 Nov 08, 2017 (151)
11 ILLUMINA ss3021545061 Nov 08, 2017 (151)
12 TOPMED ss3204455068 Nov 08, 2017 (151)
13 ILLUMINA ss3651935150 Oct 12, 2018 (152)
14 ILLUMINA ss3653784305 Oct 12, 2018 (152)
15 1000Genomes NC_000013.10 - 113772832 Oct 12, 2018 (152)
16 ExAC NC_000013.10 - 113772832 Oct 12, 2018 (152)
17 gnomAD - Genomes NC_000013.10 - 113772832 Oct 12, 2018 (152)
18 gnomAD - Exomes NC_000013.10 - 113772832 Oct 12, 2018 (152)
19 TopMed NC_000013.11 - 113118518 Oct 12, 2018 (152)

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
62957068, 1698168, 58450514, 7741771, ss713162594, ss1350014504, ss1691362777, ss1959533110, ss2364261900, ss2740527608, ss2749080871, ss2924748990, ss3021545061, ss3651935150, ss3653784305 NC_000013.10:113772831:C:T NC_000013.11:113118517:C:T (self)
111252214, ss288288624, ss2200009417, ss3204455068 NC_000013.11:113118517:C:T NC_000013.11:113118517:C:T (self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs121964931

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.post104+4a6ee9c