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rs397516894

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516894(C;T)
Make rs397516894(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position140754208
GeneBRAF
is asnp
is mentioned by
dbSNPrs397516894
dbSNP (classic)rs397516894
ClinGenrs397516894
ebirs397516894
HLIrs397516894
Exacrs397516894
Gnomadrs397516894
Varsomers397516894
LitVarrs397516894
Maprs397516894
PheGenIrs397516894
Biobankrs397516894
1000 genomesrs397516894
hgdprs397516894
ensemblrs397516894
geneviewrs397516894
scholarrs397516894
googlers397516894
pharmgkbrs397516894
gwascentralrs397516894
openSNPrs397516894
23andMers397516894
SNPshotrs397516894
SNPdbers397516894
MSV3drs397516894
GWAS Ctlgrs397516894
Max Magnitude0
ClinVar
Risk rs397516894(G;G) rs397516894(T;T)
Alt rs397516894(G;G) rs397516894(T;T)
Reference Rs397516894(C;C)
Significance Pathogenic
Disease Cardio-facio-cutaneous syndrome
Variation info
Gene BRAF
CLNDBN Cardio-facio-cutaneous syndrome
Reversed 1
HGVS NC_000007.13:g.140454008G>A
CLNSRC
CLNACC RCV000037928.2,