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rs193922488

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922488(G;T)
Make rs193922488(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position37739640
GeneHNF1B
is asnp
is mentioned by
dbSNPrs193922488
dbSNP (classic)rs193922488
ClinGenrs193922488
ebirs193922488
HLIrs193922488
Exacrs193922488
Gnomadrs193922488
Varsomers193922488
LitVarrs193922488
Maprs193922488
PheGenIrs193922488
Biobankrs193922488
1000 genomesrs193922488
hgdprs193922488
ensemblrs193922488
geneviewrs193922488
scholarrs193922488
googlers193922488
pharmgkbrs193922488
gwascentralrs193922488
openSNPrs193922488
23andMers193922488
SNPshotrs193922488
SNPdbers193922488
MSV3drs193922488
GWAS Ctlgrs193922488
Max Magnitude0
ClinVar
Risk rs193922488(T;T)
Alt rs193922488(T;T)
Reference Rs193922488(G;G)
Significance Probable-Pathogenic
Disease Familial hypoplastic
Variation info
Gene HNF1B
CLNDBN Familial hypoplastic, glomerulocystic kidney
Reversed 1
HGVS NC_000017.10:g.36099631C>A
CLNSRC ClinVar
CLNACC RCV000030529.1,