rs397507483
A SNP in the BRAF gene on chromosome 7. Its most notable genotype is A;C: Rasopathy; Cardio-facio-cutaneous syndrome
- Gene
- BRAF
- Location
- Chr 7140,753,348 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- A;CMost notableBadRasopathy; Cardio-facio-cutaneous syndrome
SNPedia records rs397507483 on the minus strand: (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other BRAF SNPs
- rs121913341A;CRasopathy; Cardio-facio-cutaneous syndromeVery important
- rs121913355C;TRasopathy; Cardio-facio-cutaneous syndromeVery important
- rs180177034C;GRasopathy; Cardio-facio-cutaneous syndromeVery important
- rs180177035C;TRasopathy; Cardio-facio-cutaneous syndromeVery important
- rs180177040C;TRasopathy; Cardio-facio-cutaneous syndromeVery important
- rs397507465G;TRasopathy; Cardio-facio-cutaneous syndromeVery important
- rs397507479C;TRasopathy; Cardio-facio-cutaneous syndromeVery important
- rs869025606C;CCardiofaciocutaneous syndromeVery important
Notes
From SNPedia
Notes
aka c.1787G>T (p.Gly596Val) 23andMe name: i6008198
A;C
See links via main rs-page
Source and license
Adapted from rs397507483 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.