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rs180177041

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177041(C;C)
Make rs180177041(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position140777006
GeneBRAF
is asnp
is mentioned by
dbSNPrs180177041
ebirs180177041
HLIrs180177041
Exacrs180177041
Varsomers180177041
Maprs180177041
PheGenIrs180177041
hapmaprs180177041
1000 genomesrs180177041
hgdprs180177041
ensemblrs180177041
gopubmedrs180177041
geneviewrs180177041
scholarrs180177041
googlers180177041
pharmgkbrs180177041
gwascentralrs180177041
openSNPrs180177041
23andMers180177041
23andMe allrs180177041
SNP Nexus

SNPshotrs180177041
SNPdbers180177041
MSV3drs180177041
GWAS Ctlgrs180177041
Max Magnitude0
ClinVar
Risk rs180177041(C;C)
Alt rs180177041(C;C)
Reference rs180177041(G;G)
Significance Pathogenic
Disease Cardiofaciocutaneous syndrome 1 Cardiofaciocutaneous syndrome
Variation info
Gene BRAF
CLNDBN Cardiofaciocutaneous syndrome 1 Cardiofaciocutaneous syndrome
Reversed 1
HGVS NC_000007.13:g.140476806C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015014.28, RCV000208775.1,