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rs193922661

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922661(A;A)
Make rs193922661(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position30672335
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs193922661
dbSNP (classic)rs193922661
ClinGenrs193922661
ebirs193922661
HLIrs193922661
Exacrs193922661
Gnomadrs193922661
Varsomers193922661
LitVarrs193922661
Maprs193922661
PheGenIrs193922661
Biobankrs193922661
1000 genomesrs193922661
hgdprs193922661
ensemblrs193922661
geneviewrs193922661
scholarrs193922661
googlers193922661
pharmgkbrs193922661
gwascentralrs193922661
openSNPrs193922661
23andMers193922661
SNPshotrs193922661
SNPdbers193922661
MSV3drs193922661
GWAS Ctlgrs193922661
Max Magnitude0
ClinVar
Risk rs193922661(A;A)
Alt rs193922661(A;A)
Reference Rs193922661(T;T)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000003.11:g.30713827T>A
CLNSRC ClinVar LabCorp
CLNACC RCV000030543.1,