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rs397507474

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397507474(A;C)
Make rs397507474(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position140778061
GeneBRAF
is asnp
is mentioned by
dbSNPrs397507474
dbSNP (classic)rs397507474
ClinGenrs397507474
ebirs397507474
HLIrs397507474
Exacrs397507474
Gnomadrs397507474
Varsomers397507474
LitVarrs397507474
Maprs397507474
PheGenIrs397507474
Biobankrs397507474
1000 genomesrs397507474
hgdprs397507474
ensemblrs397507474
geneviewrs397507474
scholarrs397507474
googlers397507474
pharmgkbrs397507474
gwascentralrs397507474
openSNPrs397507474
23andMers397507474
SNPshotrs397507474
SNPdbers397507474
MSV3drs397507474
GWAS Ctlgrs397507474
Max Magnitude0
ClinVar
Risk rs397507474(C;C)
Alt rs397507474(C;C)
Reference Rs397507474(A;A)
Significance Probable-Pathogenic
Disease Cardio-facio-cutaneous syndrome
Variation info
Gene BRAF
CLNDBN Cardio-facio-cutaneous syndrome
Reversed 1
HGVS NC_000007.13:g.140477861T>G
CLNSRC ClinVar
CLNACC RCV000150208.1,