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rs193922489

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922489(-;-)
Make rs193922489(-;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position37739507
GeneHNF1B
is asnp
is mentioned by
dbSNPrs193922489
ebirs193922489
HLIrs193922489
Exacrs193922489
Varsomers193922489
Maprs193922489
PheGenIrs193922489
hapmaprs193922489
1000 genomesrs193922489
hgdprs193922489
ensemblrs193922489
gopubmedrs193922489
geneviewrs193922489
scholarrs193922489
googlers193922489
pharmgkbrs193922489
gwascentralrs193922489
openSNPrs193922489
23andMers193922489
23andMe allrs193922489
SNP Nexus

SNPshotrs193922489
SNPdbers193922489
MSV3drs193922489
GWAS Ctlgrs193922489
Max Magnitude0
ClinVar
Risk rs193922489(;)
Alt rs193922489(;)
Reference rs193922489(T;T)
Significance Probable-Pathogenic
Disease Familial hypoplastic
Variation info
Gene HNF1B
CLNDBN Familial hypoplastic, glomerulocystic kidney
Reversed 1
HGVS NC_000017.10:g.36099498delA
CLNSRC ClinVar LabCorp
CLNACC RCV000030530.1,


[PMID 18528323] A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.