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rs397507483

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397507483(G;T)
Make rs397507483(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position140753348
GeneBRAF
is asnp
is mentioned by
dbSNPrs397507483
ebirs397507483
HLIrs397507483
Exacrs397507483
Varsomers397507483
Maprs397507483
PheGenIrs397507483
hapmaprs397507483
1000 genomesrs397507483
hgdprs397507483
ensemblrs397507483
gopubmedrs397507483
geneviewrs397507483
scholarrs397507483
googlers397507483
pharmgkbrs397507483
gwascentralrs397507483
openSNPrs397507483
23andMers397507483
23andMe allrs397507483
SNP Nexus

SNPshotrs397507483
SNPdbers397507483
MSV3drs397507483
GWAS Ctlgrs397507483
Max Magnitude0
ClinVar
Risk rs397507483(T;T)
Alt rs397507483(T;T)
Reference rs397507483(G;G)
Significance Pathogenic
Disease Rasopathy not provided Cardiofaciocutaneous syndrome
Variation info
Gene BRAF
CLNDBN Rasopathy not provided Cardiofaciocutaneous syndrome
Reversed 1
HGVS NC_000007.13:g.140453148C>A
CLNSRC HGMD
CLNACC RCV000033332.7, RCV000077865.4, RCV000208758.1,