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rs180177040

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs180177040(A;G)
Make rs180177040(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position140754187
GeneBRAF
is asnp
is mentioned by
dbSNPrs180177040
ebirs180177040
HLIrs180177040
Exacrs180177040
Varsomers180177040
Maprs180177040
PheGenIrs180177040
hapmaprs180177040
1000 genomesrs180177040
hgdprs180177040
ensemblrs180177040
gopubmedrs180177040
geneviewrs180177040
scholarrs180177040
googlers180177040
pharmgkbrs180177040
gwascentralrs180177040
openSNPrs180177040
23andMers180177040
23andMe allrs180177040
SNP Nexus

SNPshotrs180177040
SNPdbers180177040
MSV3drs180177040
GWAS Ctlgrs180177040
Max Magnitude0
ClinVar
Risk rs180177040(C,G;C,G)
Alt rs180177040(C,G;C,G)
Reference rs180177040(A;A)
Significance Pathogenic
Disease Cardiofaciocutaneous syndrome 1 not provided Cardiofaciocutaneous syndrome Rasopathy
Variation info
Gene BRAF
CLNDBN Cardiofaciocutaneous syndrome 1 not provided Cardiofaciocutaneous syndrome Rasopathy
Reversed 1
HGVS NC_000007.13:g.140453987T>C; NC_000007.13:g.140453987T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015013.30, RCV000033329.5, RCV000211751.1, RCV000049223.1,