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rs193922664

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922664(C;C)
Make rs193922664(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position30691435
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs193922664
ebirs193922664
HLIrs193922664
Exacrs193922664
Varsomers193922664
Maprs193922664
PheGenIrs193922664
hapmaprs193922664
1000 genomesrs193922664
hgdprs193922664
ensemblrs193922664
gopubmedrs193922664
geneviewrs193922664
scholarrs193922664
googlers193922664
pharmgkbrs193922664
gwascentralrs193922664
openSNPrs193922664
23andMers193922664
23andMe allrs193922664
SNP Nexus

SNPshotrs193922664
SNPdbers193922664
MSV3drs193922664
GWAS Ctlgrs193922664
Max Magnitude0
ClinVar
Risk rs193922664(C;C)
Alt rs193922664(C;C)
Reference rs193922664(T;T)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000003.11:g.30732927T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000030548.1,