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rs727503477

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 7 Loeys-Dietz Syndrome
(G;G) 0 common in clinvar


Make rs727503477(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position30691486
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs727503477
dbSNP (classic)rs727503477
ClinGenrs727503477
ebirs727503477
HLIrs727503477
Exacrs727503477
Gnomadrs727503477
Varsomers727503477
LitVarrs727503477
Maprs727503477
PheGenIrs727503477
Biobankrs727503477
1000 genomesrs727503477
hgdprs727503477
ensemblrs727503477
geneviewrs727503477
scholarrs727503477
googlers727503477
pharmgkbrs727503477
gwascentralrs727503477
openSNPrs727503477
23andMers727503477
SNPshotrs727503477
SNPdbers727503477
MSV3drs727503477
GWAS Ctlgrs727503477
Max Magnitude7
ClinVar
Risk rs727503477(A;A)
Alt rs727503477(A;A)
Reference Rs727503477(G;G)
Significance Probable-Pathogenic
Disease Thoracic aortic aneurysm and aortic dissection
Variation info
Gene TGFBR2
CLNDBN Thoracic aortic aneurysm and aortic dissection
Reversed 0
HGVS NC_000003.11:g.30732978G>A
CLNSRC
CLNACC RCV000152013.1,