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rs587782977

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587782977(A;A)
Make rs587782977(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position67165052
GeneSMAD3
is asnp
is mentioned by
dbSNPrs587782977
dbSNP (classic)rs587782977
ClinGenrs587782977
ebirs587782977
HLIrs587782977
Exacrs587782977
Gnomadrs587782977
Varsomers587782977
LitVarrs587782977
Maprs587782977
PheGenIrs587782977
Biobankrs587782977
1000 genomesrs587782977
hgdprs587782977
ensemblrs587782977
geneviewrs587782977
scholarrs587782977
googlers587782977
pharmgkbrs587782977
gwascentralrs587782977
openSNPrs587782977
23andMers587782977
SNPshotrs587782977
SNPdbers587782977
MSV3drs587782977
GWAS Ctlgrs587782977
Max Magnitude0
ClinVar
Risk rs587782977(A;A)
Alt rs587782977(A;A)
Reference Rs587782977(G;G)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection
Variation info
Gene SMAD3
CLNDBN Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection
Reversed 0
HGVS NC_000015.9:g.67457390G>A
CLNSRC
CLNACC RCV000143952.1, RCV000230825.1,