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rs387906661

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906661(A;C)
Make rs387906661(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position140801551
GeneBRAF
is asnp
is mentioned by
dbSNPrs387906661
ebirs387906661
HLIrs387906661
Exacrs387906661
Varsomers387906661
Maprs387906661
PheGenIrs387906661
hapmaprs387906661
1000 genomesrs387906661
hgdprs387906661
ensemblrs387906661
gopubmedrs387906661
geneviewrs387906661
scholarrs387906661
googlers387906661
pharmgkbrs387906661
gwascentralrs387906661
openSNPrs387906661
23andMers387906661
23andMe allrs387906661
SNP Nexus

SNPshotrs387906661
SNPdbers387906661
MSV3drs387906661
GWAS Ctlgrs387906661
Max Magnitude0
ClinVar
Risk rs387906661(C;C)
Alt rs387906661(C;C)
Reference rs387906661(A;A)
Significance Pathogenic
Disease Cardiofaciocutaneous syndrome 1 LEOPARD syndrome 3 Rasopathy Noonan syndrome with multiple lentigines not provided Cardiofaciocutaneous syndrome
Variation info
Gene BRAF
CLNDBN Cardiofaciocutaneous syndrome 1 LEOPARD syndrome 3 Rasopathy Noonan syndrome with multiple lentigines not provided Cardiofaciocutaneous syndrome
Reversed 1
HGVS NC_000007.13:g.140501351T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022680.29, RCV000022681.30, RCV000033279.2, RCV000055896.1, RCV000207516.1, RCV000211752.1,