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rs387906850

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906850(C;T)
Make rs387906850(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position67181441
GeneSMAD3
is asnp
is mentioned by
dbSNPrs387906850
dbSNP (classic)rs387906850
ClinGenrs387906850
ebirs387906850
HLIrs387906850
Exacrs387906850
Gnomadrs387906850
Varsomers387906850
LitVarrs387906850
Maprs387906850
PheGenIrs387906850
Biobankrs387906850
1000 genomesrs387906850
hgdprs387906850
ensemblrs387906850
geneviewrs387906850
scholarrs387906850
googlers387906850
pharmgkbrs387906850
gwascentralrs387906850
openSNPrs387906850
23andMers387906850
SNPshotrs387906850
SNPdbers387906850
MSV3drs387906850
GWAS Ctlgrs387906850
Max Magnitude0
ClinVar
Risk rs387906850(T;T)
Alt rs387906850(T;T)
Reference Rs387906850(C;C)
Significance Pathogenic
Disease Loeys-Dietz syndrome 3 not provided
Variation info
Gene SMAD3
CLNDBN Loeys-Dietz syndrome 3 not provided
Reversed 0
HGVS NC_000015.9:g.67473779C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023241.3, RCV000195645.3,