Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922665

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922665(C;T)
Make rs193922665(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position30650316
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs193922665
ebirs193922665
HLIrs193922665
Exacrs193922665
Varsomers193922665
Maprs193922665
PheGenIrs193922665
hapmaprs193922665
1000 genomesrs193922665
hgdprs193922665
ensemblrs193922665
gopubmedrs193922665
geneviewrs193922665
scholarrs193922665
googlers193922665
pharmgkbrs193922665
gwascentralrs193922665
openSNPrs193922665
23andMers193922665
23andMe allrs193922665
SNP Nexus

SNPshotrs193922665
SNPdbers193922665
MSV3drs193922665
GWAS Ctlgrs193922665
Max Magnitude0
ClinVar
Risk rs193922665(T;T)
Alt rs193922665(T;T)
Reference rs193922665(C;C)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000003.11:g.30691808C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000030550.1,