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rs397516904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397516904(A;C)
Make rs397516904(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position140801487
GeneBRAF
is asnp
is mentioned by
dbSNPrs397516904
ebirs397516904
HLIrs397516904
Exacrs397516904
Varsomers397516904
Maprs397516904
PheGenIrs397516904
hapmaprs397516904
1000 genomesrs397516904
hgdprs397516904
ensemblrs397516904
gopubmedrs397516904
geneviewrs397516904
scholarrs397516904
googlers397516904
pharmgkbrs397516904
gwascentralrs397516904
openSNPrs397516904
23andMers397516904
23andMe allrs397516904
SNP Nexus

SNPshotrs397516904
SNPdbers397516904
MSV3drs397516904
GWAS Ctlgrs397516904
Max Magnitude0
ClinVar
Risk rs397516904(C,G;C,G)
Alt rs397516904(C,G;C,G)
Reference rs397516904(A;A)
Significance Probable-Pathogenic
Disease not provided Rasopathy Cardiofaciocutaneous syndrome
Variation info
Gene BRAF
CLNDBN not provided Rasopathy Cardiofaciocutaneous syndrome
Reversed 1
HGVS NC_000007.13:g.140501287T>C; NC_000007.13:g.140501287T>G
CLNSRC ClinVar
CLNACC RCV000157699.1, RCV000205969.1, RCV000208128.2,