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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.

rs374136304

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:81743354 (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>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/251414, GnomAD_exome)
A=0.000008 (1/121380, ExAC)
A=0.00003 (1/35430, ALFA) (+ 3 more)
A=0.00004 (1/28258, 14KJPN)
A=0.00006 (1/16758, 8.3KJPN)
A=0.00008 (1/13006, GO-ESP)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
HGF : Stop Gained
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 35430 G=0.99997 A=0.00003, T=0.00000
European Sub 26586 G=0.99996 A=0.00004, T=0.00000
African Sub 2918 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 2804 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 500 G=1.000 A=0.000, T=0.000
Latin American 2 Sub 628 G=1.000 A=0.000, T=0.000
South Asian Sub 98 G=1.00 A=0.00, T=0.00
Other Sub 4588 G=1.0000 A=0.0000, T=0.0000


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 251414 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 135364 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 48994 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34588 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16256 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10078 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6134 G=0.9998 A=0.0002
ExAC Global Study-wide 121380 G=0.999992 A=0.000008
ExAC Europe Sub 73340 G=1.00000 A=0.00000
ExAC Asian Sub 25156 G=1.00000 A=0.00000
ExAC American Sub 11572 G=1.00000 A=0.00000
ExAC African Sub 10406 G=1.00000 A=0.00000
ExAC Other Sub 906 G=0.999 A=0.001
Allele Frequency Aggregator Total Global 35430 G=0.99997 A=0.00003, T=0.00000
Allele Frequency Aggregator European Sub 26586 G=0.99996 A=0.00004, T=0.00000
Allele Frequency Aggregator Other Sub 4588 G=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2918 G=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 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
14KJPN JAPANESE Study-wide 28258 G=0.99996 A=0.00004
8.3KJPN JAPANESE Study-wide 16758 G=0.99994 A=0.00006
GO Exome Sequencing Project Global Study-wide 13006 G=0.99992 A=0.00008
GO Exome Sequencing Project European American Sub 8600 G=0.9999 A=0.0001
GO Exome Sequencing Project African American Sub 4406 G=1.0000 A=0.0000
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 7 NC_000007.14:g.81743354G>A
GRCh38.p14 chr 7 NC_000007.14:g.81743354G>C
GRCh38.p14 chr 7 NC_000007.14:g.81743354G>T
GRCh37.p13 chr 7 NC_000007.13:g.81372670G>A
GRCh37.p13 chr 7 NC_000007.13:g.81372670G>C
GRCh37.p13 chr 7 NC_000007.13:g.81372670G>T
HGF RefSeqGene NG_016274.2:g.31783C>T
HGF RefSeqGene NG_016274.2:g.31783C>G
HGF RefSeqGene NG_016274.2:g.31783C>A
Gene: HGF, hepatocyte growth factor (minus strand)
Molecule type Change Amino acid[Codon] SO Term
HGF transcript variant 5 NM_001010934.3:c. N/A Genic Downstream Transcript Variant
HGF transcript variant 1 NM_000601.6:c.864C>T C [TGC] > C [TGT] Coding Sequence Variant
hepatocyte growth factor isoform 1 preproprotein NP_000592.3:p.Cys288= C (Cys) > C (Cys) Synonymous Variant
HGF transcript variant 1 NM_000601.6:c.864C>G C [TGC] > W [TGG] Coding Sequence Variant
hepatocyte growth factor isoform 1 preproprotein NP_000592.3:p.Cys288Trp C (Cys) > W (Trp) Missense Variant
HGF transcript variant 1 NM_000601.6:c.864C>A C [TGC] > * [TGA] Coding Sequence Variant
hepatocyte growth factor isoform 1 preproprotein NP_000592.3:p.Cys288Ter C (Cys) > * (Ter) Stop Gained
HGF transcript variant 4 NM_001010933.3:c.849C>T C [TGC] > C [TGT] Coding Sequence Variant
hepatocyte growth factor isoform 4 precursor NP_001010933.1:p.Cys283= C (Cys) > C (Cys) Synonymous Variant
HGF transcript variant 4 NM_001010933.3:c.849C>G C [TGC] > W [TGG] Coding Sequence Variant
hepatocyte growth factor isoform 4 precursor NP_001010933.1:p.Cys283Trp C (Cys) > W (Trp) Missense Variant
HGF transcript variant 4 NM_001010933.3:c.849C>A C [TGC] > * [TGA] Coding Sequence Variant
hepatocyte growth factor isoform 4 precursor NP_001010933.1:p.Cys283Ter C (Cys) > * (Ter) Stop Gained
HGF transcript variant 3 NM_001010932.3:c.849C>T C [TGC] > C [TGT] Coding Sequence Variant
hepatocyte growth factor isoform 3 preproprotein NP_001010932.1:p.Cys283= C (Cys) > C (Cys) Synonymous Variant
HGF transcript variant 3 NM_001010932.3:c.849C>G C [TGC] > W [TGG] Coding Sequence Variant
hepatocyte growth factor isoform 3 preproprotein NP_001010932.1:p.Cys283Trp C (Cys) > W (Trp) Missense Variant
HGF transcript variant 3 NM_001010932.3:c.849C>A C [TGC] > * [TGA] Coding Sequence Variant
hepatocyte growth factor isoform 3 preproprotein NP_001010932.1:p.Cys283Ter C (Cys) > * (Ter) Stop Gained
HGF transcript variant 2 NM_001010931.3:c.864C>T C [TGC] > C [TGT] Coding Sequence Variant
hepatocyte growth factor isoform 2 precursor NP_001010931.1:p.Cys288= C (Cys) > C (Cys) Synonymous Variant
HGF transcript variant 2 NM_001010931.3:c.864C>G C [TGC] > W [TGG] Coding Sequence Variant
hepatocyte growth factor isoform 2 precursor NP_001010931.1:p.Cys288Trp C (Cys) > W (Trp) Missense Variant
HGF transcript variant 2 NM_001010931.3:c.864C>A C [TGC] > * [TGA] Coding Sequence Variant
hepatocyte growth factor isoform 2 precursor NP_001010931.1:p.Cys288Ter C (Cys) > * (Ter) Stop Gained
HGF transcript variant X1 XM_047420293.1:c.864C>T C [TGC] > C [TGT] Coding Sequence Variant
hepatocyte growth factor isoform X1 XP_047276249.1:p.Cys288= C (Cys) > C (Cys) Synonymous Variant
HGF transcript variant X1 XM_047420293.1:c.864C>G C [TGC] > W [TGG] Coding Sequence Variant
hepatocyte growth factor isoform X1 XP_047276249.1:p.Cys288Trp C (Cys) > W (Trp) Missense Variant
HGF transcript variant X1 XM_047420293.1:c.864C>A C [TGC] > * [TGA] Coding Sequence Variant
hepatocyte growth factor isoform X1 XP_047276249.1:p.Cys288Ter C (Cys) > * (Ter) Stop Gained
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 C T
GRCh38.p14 chr 7 NC_000007.14:g.81743354= NC_000007.14:g.81743354G>A NC_000007.14:g.81743354G>C NC_000007.14:g.81743354G>T
GRCh37.p13 chr 7 NC_000007.13:g.81372670= NC_000007.13:g.81372670G>A NC_000007.13:g.81372670G>C NC_000007.13:g.81372670G>T
HGF RefSeqGene NG_016274.2:g.31783= NG_016274.2:g.31783C>T NG_016274.2:g.31783C>G NG_016274.2:g.31783C>A
HGF transcript variant 1 NM_000601.6:c.864= NM_000601.6:c.864C>T NM_000601.6:c.864C>G NM_000601.6:c.864C>A
HGF transcript variant 1 NM_000601.5:c.864= NM_000601.5:c.864C>T NM_000601.5:c.864C>G NM_000601.5:c.864C>A
HGF transcript variant 1 NM_000601.4:c.864= NM_000601.4:c.864C>T NM_000601.4:c.864C>G NM_000601.4:c.864C>A
HGF transcript variant 3 NM_001010932.3:c.849= NM_001010932.3:c.849C>T NM_001010932.3:c.849C>G NM_001010932.3:c.849C>A
HGF transcript variant 3 NM_001010932.2:c.849= NM_001010932.2:c.849C>T NM_001010932.2:c.849C>G NM_001010932.2:c.849C>A
HGF transcript variant 3 NM_001010932.1:c.849= NM_001010932.1:c.849C>T NM_001010932.1:c.849C>G NM_001010932.1:c.849C>A
HGF transcript variant 2 NM_001010931.3:c.864= NM_001010931.3:c.864C>T NM_001010931.3:c.864C>G NM_001010931.3:c.864C>A
HGF transcript variant 2 NM_001010931.2:c.864= NM_001010931.2:c.864C>T NM_001010931.2:c.864C>G NM_001010931.2:c.864C>A
HGF transcript variant 2 NM_001010931.1:c.864= NM_001010931.1:c.864C>T NM_001010931.1:c.864C>G NM_001010931.1:c.864C>A
HGF transcript variant 4 NM_001010933.3:c.849= NM_001010933.3:c.849C>T NM_001010933.3:c.849C>G NM_001010933.3:c.849C>A
HGF transcript variant 4 NM_001010933.2:c.849= NM_001010933.2:c.849C>T NM_001010933.2:c.849C>G NM_001010933.2:c.849C>A
HGF transcript variant 4 NM_001010933.1:c.849= NM_001010933.1:c.849C>T NM_001010933.1:c.849C>G NM_001010933.1:c.849C>A
HGF transcript variant X1 XM_047420293.1:c.864= XM_047420293.1:c.864C>T XM_047420293.1:c.864C>G XM_047420293.1:c.864C>A
hepatocyte growth factor isoform 1 preproprotein NP_000592.3:p.Cys288= NP_000592.3:p.Cys288= NP_000592.3:p.Cys288Trp NP_000592.3:p.Cys288Ter
hepatocyte growth factor isoform 3 preproprotein NP_001010932.1:p.Cys283= NP_001010932.1:p.Cys283= NP_001010932.1:p.Cys283Trp NP_001010932.1:p.Cys283Ter
hepatocyte growth factor isoform 2 precursor NP_001010931.1:p.Cys288= NP_001010931.1:p.Cys288= NP_001010931.1:p.Cys288Trp NP_001010931.1:p.Cys288Ter
hepatocyte growth factor isoform 4 precursor NP_001010933.1:p.Cys283= NP_001010933.1:p.Cys283= NP_001010933.1:p.Cys283Trp NP_001010933.1:p.Cys283Ter
hepatocyte growth factor isoform X1 XP_047276249.1:p.Cys288= XP_047276249.1:p.Cys288= XP_047276249.1:p.Cys288Trp XP_047276249.1:p.Cys288Ter
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#.

13 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss712782882 Apr 25, 2013 (138)
2 EVA_EXAC ss1688793133 Apr 01, 2015 (144)
3 GNOMAD ss2736523640 Nov 08, 2017 (151)
4 GNOMAD ss2747849846 Nov 08, 2017 (151)
5 GNOMAD ss2855355152 Nov 08, 2017 (151)
6 EVA ss3824286263 Apr 26, 2020 (154)
7 TOPMED ss4752207713 Apr 26, 2021 (155)
8 TOPMED ss4752207714 Apr 26, 2021 (155)
9 TOMMO_GENOMICS ss5184106846 Apr 26, 2021 (155)
10 TOMMO_GENOMICS ss5724654034 Oct 13, 2022 (156)
11 EVA ss5823094310 Oct 13, 2022 (156)
12 EVA ss5935871204 Oct 13, 2022 (156)
13 EVA ss5935871205 Oct 13, 2022 (156)
14 ExAC NC_000007.13 - 81372670 Oct 12, 2018 (152)
15 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 267015872 (NC_000007.14:81743353:G:A 2/140182)
Row 267015873 (NC_000007.14:81743353:G:T 1/140182)

- Apr 26, 2021 (155)
16 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 267015872 (NC_000007.14:81743353:G:A 2/140182)
Row 267015873 (NC_000007.14:81743353:G:T 1/140182)

- Apr 26, 2021 (155)
17 gnomAD - Exomes NC_000007.13 - 81372670 Jul 13, 2019 (153)
18 GO Exome Sequencing Project NC_000007.13 - 81372670 Oct 12, 2018 (152)
19 8.3KJPN NC_000007.13 - 81372670 Apr 26, 2021 (155)
20 14KJPN NC_000007.14 - 81743354 Oct 13, 2022 (156)
21 TopMed

Submission ignored due to conflicting rows:
Row 589585272 (NC_000007.14:81743353:G:A 10/264690)
Row 589585273 (NC_000007.14:81743353:G:T 1/264690)

- Apr 26, 2021 (155)
22 TopMed

Submission ignored due to conflicting rows:
Row 589585272 (NC_000007.14:81743353:G:A 10/264690)
Row 589585273 (NC_000007.14:81743353:G:T 1/264690)

- Apr 26, 2021 (155)
23 ALFA NC_000007.14 - 81743354 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
8863045, 5685609, 744219, 42076153, ss712782882, ss1688793133, ss2736523640, ss2747849846, ss2855355152, ss3824286263, ss5184106846, ss5823094310, ss5935871205 NC_000007.13:81372669:G:A NC_000007.14:81743353:G:A (self)
58491138, 12150139606, ss4752207713, ss5724654034 NC_000007.14:81743353:G:A NC_000007.14:81743353:G:A (self)
ss5935871204, ss5935871205 NC_000007.13:81372669:G:C NC_000007.14:81743353:G:C
12150139606, ss4752207714 NC_000007.14:81743353:G:T NC_000007.14:81743353: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 rs374136304

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