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rs387907284

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907284(C;T)
Make rs387907284(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position66781288
GeneSMAD6
is asnp
is mentioned by
dbSNPrs387907284
ebirs387907284
HLIrs387907284
Exacrs387907284
Varsomers387907284
Maprs387907284
PheGenIrs387907284
hapmaprs387907284
1000 genomesrs387907284
hgdprs387907284
ensemblrs387907284
gopubmedrs387907284
geneviewrs387907284
scholarrs387907284
googlers387907284
pharmgkbrs387907284
gwascentralrs387907284
openSNPrs387907284
23andMers387907284
23andMe allrs387907284
SNP Nexus

SNPshotrs387907284
SNPdbers387907284
MSV3drs387907284
GWAS Ctlgrs387907284
Max Magnitude0
ClinVar
Risk rs387907284(G,T;G,T)
Alt rs387907284(G,T;G,T)
Reference rs387907284(C;C)
Significance Pathogenic
Disease Aortic valve disease 2
Variation info
Gene SMAD6
CLNDBN Aortic valve disease 2
Reversed 0
HGVS NC_000015.9:g.67073626C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030754.2,