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rs11466532

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs11466532(C;T)
Make rs11466532(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position30692953
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs11466532
dbSNP (classic)rs11466532
ClinGenrs11466532
ebirs11466532
HLIrs11466532
Exacrs11466532
Gnomadrs11466532
Varsomers11466532
LitVarrs11466532
Maprs11466532
PheGenIrs11466532
Biobankrs11466532
1000 genomesrs11466532
hgdprs11466532
ensemblrs11466532
geneviewrs11466532
scholarrs11466532
googlers11466532
pharmgkbrs11466532
gwascentralrs11466532
openSNPrs11466532
23andMers11466532
SNPshotrs11466532
SNPdbers11466532
MSV3drs11466532
GWAS Ctlgrs11466532
GMAF0.007346
Max Magnitude0
? (C;C) (C;T) (T;T) 28


[PMID 22336710] Modeling SNP mediated differential targeting of homologous 3'UTR by microRNA


ClinVar
Risk rs11466532(T;T)
Alt rs11466532(T;T)
Reference Rs11466532(C;C)
Significance Probable-non-pathogenic
Disease Marfan syndrome Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome
Variation info
Gene TGFBR2
CLNDBN Marfan syndrome Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome
Reversed 0
HGVS NC_000003.11:g.30734445C>T
CLNSRC
CLNACC RCV000289180.1, RCV000328103.1, RCV000384929.1,