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rs869025606

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 6 Cardiofaciocutaneous syndrome
(G;T) 6 Cardiofaciocutaneous syndrome
(T;T) 0 common/normal
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position140781609
GeneBRAF
is asnp
is mentioned by
dbSNPrs869025606
ebirs869025606
HLIrs869025606
Exacrs869025606
Varsomers869025606
Maprs869025606
PheGenIrs869025606
hapmaprs869025606
1000 genomesrs869025606
hgdprs869025606
ensemblrs869025606
gopubmedrs869025606
geneviewrs869025606
scholarrs869025606
googlers869025606
pharmgkbrs869025606
gwascentralrs869025606
openSNPrs869025606
23andMers869025606
23andMe allrs869025606
SNP Nexus

SNPshotrs869025606
SNPdbers869025606
MSV3drs869025606
GWAS Ctlgrs869025606
Max Magnitude6
aka c.1399T>G, p.Ser467Ala or S467A

reported in ClinVar as pathogenic for cardiofaciocutaneous syndrome

ClinVar
Risk rs869025606(G;G)
Alt rs869025606(G;G)
Reference rs869025606(T;T)
Significance Pathogenic
Disease Cardiofaciocutaneous syndrome
Variation info
Gene BRAF
CLNDBN Cardiofaciocutaneous syndrome
Reversed 1
HGVS NC_000007.13:g.140481409A>C
CLNSRC
CLNACC RCV000208777.1,