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rs794729219

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794729219(C;C)
Make rs794729219(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position140753352
GeneBRAF
is asnp
is mentioned by
dbSNPrs794729219
ebirs794729219
HLIrs794729219
Exacrs794729219
Varsomers794729219
Maprs794729219
PheGenIrs794729219
hapmaprs794729219
1000 genomesrs794729219
hgdprs794729219
ensemblrs794729219
gopubmedrs794729219
geneviewrs794729219
scholarrs794729219
googlers794729219
pharmgkbrs794729219
gwascentralrs794729219
openSNPrs794729219
23andMers794729219
23andMe allrs794729219
SNP Nexus

SNPshotrs794729219
SNPdbers794729219
MSV3drs794729219
GWAS Ctlgrs794729219
Max Magnitude0
ClinVar
Risk rs794729219(C;C)
Alt rs794729219(C;C)
Reference rs794729219(T;T)
Significance Pathogenic
Disease Cardiofaciocutaneous syndrome 1
Variation info
Gene BRAF
CLNDBN Cardiofaciocutaneous syndrome 1
Reversed 1
HGVS NC_000007.13:g.140453152A>G
CLNSRC
CLNACC RCV000184039.1,