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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.

rs371976102

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr7:140739809 (GRCh38.p13) 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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000559 (148/264690, TOPMED)
C=0.000167 (42/251252, GnomAD_exome)
C=0.000428 (60/140260, GnomAD) (+ 4 more)
C=0.000198 (24/121360, ExAC)
C=0.00018 (8/44784, ALFA)
C=0.00046 (6/13006, GO-ESP)
C=0.0016 (8/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
BRAF : Intron Variant
Publications
1 citation
Genomic View
See rs on genome
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.p13 chr 7 NC_000007.14:g.140739809T>C
GRCh37.p13 chr 7 NC_000007.13:g.140439609T>C
BRAF RefSeqGene (LRG_299) NG_007873.3:g.189956A>G
Gene: BRAF, B-Raf proto-oncogene, serine/threonine kinase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BRAF transcript variant 2 NM_001354609.2:c.2127+3A>G N/A Intron Variant
BRAF transcript variant 4 NM_001374244.1:c.2247+3A>G N/A Intron Variant
BRAF transcript variant 5 NM_001374258.1:c.2247+3A>G N/A Intron Variant
BRAF transcript variant 6 NM_001378467.1:c.2136+3A>G N/A Intron Variant
BRAF transcript variant 7 NM_001378468.1:c.2127+3A>G N/A Intron Variant
BRAF transcript variant 8 NM_001378469.1:c.2061+3A>G N/A Intron Variant
BRAF transcript variant 9 NM_001378470.1:c.2025+3A>G N/A Intron Variant
BRAF transcript variant 10 NM_001378471.1:c.2016+3A>G N/A Intron Variant
BRAF transcript variant 11 NM_001378472.1:c.1971+3A>G N/A Intron Variant
BRAF transcript variant 12 NM_001378473.1:c.1971+3A>G N/A Intron Variant
BRAF transcript variant 13 NM_001378474.1:c.2127+3A>G N/A Intron Variant
BRAF transcript variant 14 NM_001378475.1:c.1863+3A>G N/A Intron Variant
BRAF transcript variant 1 NM_004333.6:c.2127+3A>G N/A Intron Variant
BRAF transcript variant X2 XM_017012559.1:c.2247+3A>G N/A Intron Variant
BRAF transcript variant X3 XR_001744857.1:n. N/A Intron Variant
BRAF transcript variant X4 XR_001744858.1: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.

Allele: C (allele ID: 49885 )
ClinVar Accession Disease Names Clinical Significance
RCV000034333.8 not specified Benign-Likely-Benign
RCV000157707.9 Rasopathy Benign
RCV000590004.3 not provided Benign
RCV001159454.1 Noonan syndrome 7 Likely-Benign
RCV001159455.1 LEOPARD syndrome 3 Benign

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 44784 T=0.99982 C=0.00018
European Sub 32782 T=1.00000 C=0.00000
African Sub 3560 T=0.9986 C=0.0014
African Others Sub 122 T=0.992 C=0.008
African American Sub 3438 T=0.9988 C=0.0012
Asian Sub 168 T=1.000 C=0.000
East Asian Sub 112 T=1.000 C=0.000
Other Asian Sub 56 T=1.00 C=0.00
Latin American 1 Sub 500 T=0.998 C=0.002
Latin American 2 Sub 628 T=1.000 C=0.000
South Asian Sub 98 T=1.00 C=0.00
Other Sub 7048 T=0.9997 C=0.0003


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=0.999441 C=0.000559
gnomAD - Exomes Global Study-wide 251252 T=0.999833 C=0.000167
gnomAD - Exomes European Sub 135222 T=0.999985 C=0.000015
gnomAD - Exomes Asian Sub 49000 T=1.00000 C=0.00000
gnomAD - Exomes American Sub 34580 T=0.99986 C=0.00014
gnomAD - Exomes African Sub 16254 T=0.99785 C=0.00215
gnomAD - Exomes Ashkenazi Jewish Sub 10074 T=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6122 T=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 140260 T=0.999572 C=0.000428
gnomAD - Genomes European Sub 75950 T=1.00000 C=0.00000
gnomAD - Genomes African Sub 42046 T=0.99869 C=0.00131
gnomAD - Genomes American Sub 13658 T=0.99978 C=0.00022
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3132 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2154 T=0.9991 C=0.0009
ExAC Global Study-wide 121360 T=0.999802 C=0.000198
ExAC Europe Sub 73328 T=0.99999 C=0.00001
ExAC Asian Sub 25158 T=1.00000 C=0.00000
ExAC American Sub 11568 T=1.00000 C=0.00000
ExAC African Sub 10398 T=0.99779 C=0.00221
ExAC Other Sub 908 T=1.000 C=0.000
GO Exome Sequencing Project Global Study-wide 13006 T=0.99954 C=0.00046
GO Exome Sequencing Project European American Sub 8600 T=1.0000 C=0.0000
GO Exome Sequencing Project African American Sub 4406 T=0.9986 C=0.0014
1000Genomes Global Study-wide 5008 T=0.9984 C=0.0016
1000Genomes African Sub 1322 T=0.9939 C=0.0061
1000Genomes East Asian Sub 1008 T=1.0000 C=0.0000
1000Genomes Europe Sub 1006 T=1.0000 C=0.0000
1000Genomes South Asian Sub 978 T=1.000 C=0.000
1000Genomes American Sub 694 T=1.000 C=0.000
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= C
GRCh38.p13 chr 7 NC_000007.14:g.140739809= NC_000007.14:g.140739809T>C
GRCh37.p13 chr 7 NC_000007.13:g.140439609= NC_000007.13:g.140439609T>C
BRAF RefSeqGene (LRG_299) NG_007873.3:g.189956= NG_007873.3:g.189956A>G
BRAF transcript variant 2 NM_001354609.2:c.2127+3= NM_001354609.2:c.2127+3A>G
BRAF transcript variant 4 NM_001374244.1:c.2247+3= NM_001374244.1:c.2247+3A>G
BRAF transcript variant 5 NM_001374258.1:c.2247+3= NM_001374258.1:c.2247+3A>G
BRAF transcript variant 6 NM_001378467.1:c.2136+3= NM_001378467.1:c.2136+3A>G
BRAF transcript variant 7 NM_001378468.1:c.2127+3= NM_001378468.1:c.2127+3A>G
BRAF transcript variant 8 NM_001378469.1:c.2061+3= NM_001378469.1:c.2061+3A>G
BRAF transcript variant 9 NM_001378470.1:c.2025+3= NM_001378470.1:c.2025+3A>G
BRAF transcript variant 10 NM_001378471.1:c.2016+3= NM_001378471.1:c.2016+3A>G
BRAF transcript variant 11 NM_001378472.1:c.1971+3= NM_001378472.1:c.1971+3A>G
BRAF transcript variant 12 NM_001378473.1:c.1971+3= NM_001378473.1:c.1971+3A>G
BRAF transcript variant 13 NM_001378474.1:c.2127+3= NM_001378474.1:c.2127+3A>G
BRAF transcript variant 14 NM_001378475.1:c.1863+3= NM_001378475.1:c.1863+3A>G
BRAF transcript NM_004333.4:c.2127+3= NM_004333.4:c.2127+3A>G
BRAF transcript variant 1 NM_004333.6:c.2127+3= NM_004333.6:c.2127+3A>G
BRAF transcript variant X1 XM_005250045.1:c.2127+3= XM_005250045.1:c.2127+3A>G
BRAF transcript variant X2 XM_005250046.1:c.2127+3= XM_005250046.1:c.2127+3A>G
BRAF transcript variant X3 XM_005250047.1:c.2127+3= XM_005250047.1:c.2127+3A>G
BRAF transcript variant X2 XM_017012559.1:c.2247+3= XM_017012559.1:c.2247+3A>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#.

12 SubSNP, 7 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss712815516 Apr 25, 2013 (138)
2 EGL ss836188027 Oct 18, 2013 (136)
3 1000GENOMES ss1327454758 Aug 21, 2014 (142)
4 EVA_EXAC ss1688978986 Apr 01, 2015 (144)
5 HUMAN_LONGEVITY ss2298522514 Dec 20, 2016 (150)
6 TOPMED ss2468014920 Dec 20, 2016 (150)
7 GNOMAD ss2736818008 Nov 08, 2017 (151)
8 GNOMAD ss2747939250 Nov 08, 2017 (151)
9 GNOMAD ss2860022764 Nov 08, 2017 (151)
10 TOPMED ss3546520105 Nov 08, 2017 (151)
11 EVA ss3824324677 Apr 26, 2020 (154)
12 TOPMED ss4766557461 Apr 26, 2021 (155)
13 1000Genomes NC_000007.13 - 140439609 Oct 12, 2018 (152)
14 ExAC NC_000007.13 - 140439609 Oct 12, 2018 (152)
15 gnomAD - Genomes NC_000007.14 - 140739809 Apr 26, 2021 (155)
16 gnomAD - Exomes NC_000007.13 - 140439609 Jul 13, 2019 (153)
17 GO Exome Sequencing Project NC_000007.13 - 140439609 Oct 12, 2018 (152)
18 TopMed NC_000007.14 - 140739809 Apr 26, 2021 (155)
19 ALFA NC_000007.14 - 140739809 Apr 26, 2021 (155)
20 ClinVar RCV000034333.8 Oct 12, 2018 (152)
21 ClinVar RCV000157707.9 Apr 26, 2021 (155)
22 ClinVar RCV000590004.3 Apr 26, 2021 (155)
23 ClinVar RCV001159454.1 Apr 26, 2021 (155)
24 ClinVar RCV001159455.1 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
39510837, 9063792, 5983397, 782554, ss712815516, ss1327454758, ss1688978986, ss2468014920, ss2736818008, ss2747939250, ss2860022764, ss3824324677 NC_000007.13:140439608:T:C NC_000007.14:140739808:T:C (self)
RCV000034333.8, RCV000157707.9, RCV000590004.3, RCV001159454.1, RCV001159455.1, 279008830, 377638022, 603935020, 10766201419, ss836188027, ss2298522514, ss3546520105, ss4766557461 NC_000007.14:140739808:T:C NC_000007.14:140739808:T:C (self)
Help

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

1 citation for rs371976102
PMID Title Author Year Journal
23757202 Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Bean LJ et al. 2013 Human mutation
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.post596+ae089ad