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rs193922482

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922482(C;C)
Make rs193922482(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position37704931
GeneHNF1B, LOC107985009
is asnp
is mentioned by
dbSNPrs193922482
dbSNP (classic)rs193922482
ClinGenrs193922482
ebirs193922482
HLIrs193922482
Exacrs193922482
Gnomadrs193922482
Varsomers193922482
LitVarrs193922482
Maprs193922482
PheGenIrs193922482
Biobankrs193922482
1000 genomesrs193922482
hgdprs193922482
ensemblrs193922482
geneviewrs193922482
scholarrs193922482
googlers193922482
pharmgkbrs193922482
gwascentralrs193922482
openSNPrs193922482
23andMers193922482
SNPshotrs193922482
SNPdbers193922482
MSV3drs193922482
GWAS Ctlgrs193922482
Max Magnitude0
ClinVar
Risk rs193922482(C;C)
Alt rs193922482(C;C)
Reference Rs193922482(T;T)
Significance Probable-Pathogenic
Disease Familial hypoplastic
Variation info
Gene HNF1B
CLNDBN Familial hypoplastic, glomerulocystic kidney
Reversed 1
HGVS NC_000017.10:g.36064938A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000030520.1,