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rs397507466

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397507466(A;C)
Make rs397507466(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position140801537
GeneBRAF
is asnp
is mentioned by
dbSNPrs397507466
ebirs397507466
HLIrs397507466
Exacrs397507466
Varsomers397507466
Maprs397507466
PheGenIrs397507466
hapmaprs397507466
1000 genomesrs397507466
hgdprs397507466
ensemblrs397507466
gopubmedrs397507466
geneviewrs397507466
scholarrs397507466
googlers397507466
pharmgkbrs397507466
gwascentralrs397507466
openSNPrs397507466
23andMers397507466
23andMe allrs397507466
SNP Nexus

SNPshotrs397507466
SNPdbers397507466
MSV3drs397507466
GWAS Ctlgrs397507466
Max Magnitude0
ClinVar
Risk rs397507466(C,T;C,T)
Alt rs397507466(C,T;C,T)
Reference rs397507466(A;A)
Significance Pathogenic
Disease not provided Cardiofaciocutaneous syndrome Noonan syndrome with multiple lentigines LEOPARD syndrome 3
Variation info
Gene BRAF
CLNDBN not provided Cardiofaciocutaneous syndrome Noonan syndrome with multiple lentigines LEOPARD syndrome 3
Reversed 1
HGVS NC_000007.13:g.140501337T>A; NC_000007.13:g.140501337T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000033284.4, RCV000037957.2, RCV000055897.1, RCV000033283.5, RCV000037956.2, RCV000171142.3,