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rs387907283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907283(G;T)
Make rs387907283(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position66781495
GeneSMAD6
is asnp
is mentioned by
dbSNPrs387907283
ebirs387907283
HLIrs387907283
Exacrs387907283
Varsomers387907283
Maprs387907283
PheGenIrs387907283
hapmaprs387907283
1000 genomesrs387907283
hgdprs387907283
ensemblrs387907283
gopubmedrs387907283
geneviewrs387907283
scholarrs387907283
googlers387907283
pharmgkbrs387907283
gwascentralrs387907283
openSNPrs387907283
23andMers387907283
23andMe allrs387907283
SNP Nexus

SNPshotrs387907283
SNPdbers387907283
MSV3drs387907283
GWAS Ctlgrs387907283
Max Magnitude0
ClinVar
Risk rs387907283(T;T)
Alt rs387907283(T;T)
Reference rs387907283(G;G)
Significance Pathogenic
Disease Aortic valve disease 2
Variation info
Gene SMAD6
CLNDBN Aortic valve disease 2
Reversed 0
HGVS NC_000015.9:g.67073833G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030753.2,