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rs757106110

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.5 Familial thoracic aortic aneurysms and dissections (FTAAD)
Make rs757106110(A;A)
Make rs757106110(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position67187457
GeneSMAD3
is asnp
is mentioned by
dbSNPrs757106110
dbSNP (classic)rs757106110
ClinGenrs757106110
ebirs757106110
HLIrs757106110
Exacrs757106110
Gnomadrs757106110
Varsomers757106110
LitVarrs757106110
Maprs757106110
PheGenIrs757106110
Biobankrs757106110
1000 genomesrs757106110
hgdprs757106110
ensemblrs757106110
geneviewrs757106110
scholarrs757106110
googlers757106110
pharmgkbrs757106110
gwascentralrs757106110
openSNPrs757106110
23andMers757106110
SNPshotrs757106110
SNPdbers757106110
MSV3drs757106110
GWAS Ctlgrs757106110
Max Magnitude6.5
ClinVar
Risk rs757106110(A;A) rs757106110(T;T)
Alt rs757106110(A;A) rs757106110(T;T)
Reference Rs757106110(C;C)
Significance Pathogenic
Disease Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome not specified not provided
Variation info
Gene SMAD3
CLNDBN Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome not specified not provided
Reversed 0
HGVS NC_000015.9:g.67479795C>A; NC_000015.9:g.67479795C>T
CLNSRC
CLNACC RCV000245579.2, RCV000407831.1, RCV000443084.1, RCV000478284.1,