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rs387906856

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 7 Loeys-Dietz Syndrome
Make rs387906856(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position67187436
GeneSMAD3
is asnp
is mentioned by
dbSNPrs387906856
dbSNP (classic)rs387906856
ClinGenrs387906856
ebirs387906856
HLIrs387906856
Exacrs387906856
Gnomadrs387906856
Varsomers387906856
LitVarrs387906856
Maprs387906856
PheGenIrs387906856
Biobankrs387906856
1000 genomesrs387906856
hgdprs387906856
ensemblrs387906856
geneviewrs387906856
scholarrs387906856
googlers387906856
pharmgkbrs387906856
gwascentralrs387906856
openSNPrs387906856
23andMers387906856
SNPshotrs387906856
SNPdbers387906856
MSV3drs387906856
GWAS Ctlgrs387906856
Max Magnitude7
ClinVar
Risk rs387906856(A;A) rs387906856(C;C) rs387906856(T;T)
Alt rs387906856(A;A) rs387906856(C;C) rs387906856(T;T)
Reference Rs387906856(G;G)
Significance Pathogenic
Disease not provided not specified Loeys-Dietz syndrome 3
Variation info
Gene SMAD3
CLNDBN not provided not specified Loeys-Dietz syndrome 3
Reversed 0
HGVS NC_000015.9:g.67479774G>A; NC_000015.9:g.67479774G>C; NC_000015.9:g.67479774G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000488339.1, RCV000200069.1, RCV000023250.3,