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rs35874463

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs35874463(A;G)
Make rs35874463(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position67165360
GeneSMAD3
is asnp
is mentioned by
dbSNPrs35874463
dbSNP (classic)rs35874463
ClinGenrs35874463
ebirs35874463
HLIrs35874463
Exacrs35874463
Gnomadrs35874463
Varsomers35874463
LitVarrs35874463
Maprs35874463
PheGenIrs35874463
Biobankrs35874463
1000 genomesrs35874463
hgdprs35874463
ensemblrs35874463
geneviewrs35874463
scholarrs35874463
googlers35874463
pharmgkbrs35874463
gwascentralrs35874463
openSNPrs35874463
23andMers35874463
SNPshotrs35874463
SNPdbers35874463
MSV3drs35874463
GWAS Ctlgrs35874463
Max Magnitude0

[PMID 26110764OA-icon.png] Characterization of SMAD3 Gene Variants for Possible Roles in Ventricular Septal Defects and Other Congenital Heart Diseases


ClinVar
Risk rs35874463(G;G)
Alt rs35874463(G;G)
Reference Rs35874463(A;A)
Significance Other
Disease not specified Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome
Variation info
Gene SMAD3
CLNDBN not specified Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome
Reversed 0
HGVS NC_000015.9:g.67457698A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000128164.6, RCV000246765.2, RCV000405224.1,