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rs180177036

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177036(C;C)
Make rs180177036(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position140778053
GeneBRAF
is asnp
is mentioned by
dbSNPrs180177036
ebirs180177036
HLIrs180177036
Exacrs180177036
Varsomers180177036
Maprs180177036
PheGenIrs180177036
hapmaprs180177036
1000 genomesrs180177036
hgdprs180177036
ensemblrs180177036
gopubmedrs180177036
geneviewrs180177036
scholarrs180177036
googlers180177036
pharmgkbrs180177036
gwascentralrs180177036
openSNPrs180177036
23andMers180177036
23andMe allrs180177036
SNP Nexus

SNPshotrs180177036
SNPdbers180177036
MSV3drs180177036
GWAS Ctlgrs180177036
Max Magnitude0
ClinVar
Risk rs180177036(C,T;C,T)
Alt rs180177036(C,T;C,T)
Reference rs180177036(G;G)
Significance Pathogenic
Disease Rasopathy Cardiofaciocutaneous syndrome 1 Cardiofaciocutaneous syndrome
Variation info
Gene BRAF
CLNDBN Rasopathy Cardiofaciocutaneous syndrome 1 Cardiofaciocutaneous syndrome
Reversed 1
HGVS NC_000007.13:g.140477853C>A; NC_000007.13:g.140477853C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000154481.1, RCV000015009.30, RCV000208764.1, RCV000211749.1,