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rs387906854

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906854(C;T)
Make rs387906854(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position67165023
GeneSMAD3
is asnp
is mentioned by
dbSNPrs387906854
ebirs387906854
HLIrs387906854
Exacrs387906854
Varsomers387906854
Maprs387906854
PheGenIrs387906854
hapmaprs387906854
1000 genomesrs387906854
hgdprs387906854
ensemblrs387906854
gopubmedrs387906854
geneviewrs387906854
scholarrs387906854
googlers387906854
pharmgkbrs387906854
gwascentralrs387906854
openSNPrs387906854
23andMers387906854
23andMe allrs387906854
SNP Nexus

SNPshotrs387906854
SNPdbers387906854
MSV3drs387906854
GWAS Ctlgrs387906854
Max Magnitude0
ClinVar
Risk rs387906854(T;T)
Alt rs387906854(T;T)
Reference rs387906854(C;C)
Significance Pathogenic
Disease Loeys-Dietz syndrome 3
Variation info
Gene SMAD3
CLNDBN Loeys-Dietz syndrome 3
Reversed 0
HGVS NC_000015.9:g.67457361C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023247.3,