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rs727503475

From SNPedia

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


Make rs727503475(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position30688512
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs727503475
dbSNP (classic)rs727503475
ClinGenrs727503475
ebirs727503475
HLIrs727503475
Exacrs727503475
Gnomadrs727503475
Varsomers727503475
LitVarrs727503475
Maprs727503475
PheGenIrs727503475
Biobankrs727503475
1000 genomesrs727503475
hgdprs727503475
ensemblrs727503475
geneviewrs727503475
scholarrs727503475
googlers727503475
pharmgkbrs727503475
gwascentralrs727503475
openSNPrs727503475
23andMers727503475
23andMe allrs727503475
SNPshotrs727503475
SNPdbers727503475
MSV3drs727503475
GWAS Ctlgrs727503475
Max Magnitude7
ClinVar
Risk rs727503475(A;A)
Alt rs727503475(A;A)
Reference Rs727503475(G;G)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000003.11:g.30730004G>A
CLNSRC
CLNACC RCV000152011.1,