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rs387906855

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906855(C;T)
Make rs387906855(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position67181370
GeneSMAD3
is asnp
is mentioned by
dbSNPrs387906855
dbSNP (classic)rs387906855
ClinGenrs387906855
ebirs387906855
HLIrs387906855
Exacrs387906855
Gnomadrs387906855
Varsomers387906855
LitVarrs387906855
Maprs387906855
PheGenIrs387906855
Biobankrs387906855
1000 genomesrs387906855
hgdprs387906855
ensemblrs387906855
geneviewrs387906855
scholarrs387906855
googlers387906855
pharmgkbrs387906855
gwascentralrs387906855
openSNPrs387906855
23andMers387906855
SNPshotrs387906855
SNPdbers387906855
MSV3drs387906855
GWAS Ctlgrs387906855
Max Magnitude0
ClinVar
Risk rs387906855(G;G) rs387906855(T;T)
Alt rs387906855(G;G) rs387906855(T;T)
Reference Rs387906855(C;C)
Significance Pathogenic
Disease not specified Loeys-Dietz syndrome 3
Variation info
Gene SMAD3
CLNDBN not specified Loeys-Dietz syndrome 3
Reversed 0
HGVS NC_000015.9:g.67473708C>G; NC_000015.9:g.67473708C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000198998.2, RCV000023249.3,