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rs193922483

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922483(C;T)
Make rs193922483(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position37744745
GeneHNF1B
is asnp
is mentioned by
dbSNPrs193922483
dbSNP (classic)rs193922483
ClinGenrs193922483
ebirs193922483
HLIrs193922483
Exacrs193922483
Gnomadrs193922483
Varsomers193922483
LitVarrs193922483
Maprs193922483
PheGenIrs193922483
Biobankrs193922483
1000 genomesrs193922483
hgdprs193922483
ensemblrs193922483
geneviewrs193922483
scholarrs193922483
googlers193922483
pharmgkbrs193922483
gwascentralrs193922483
openSNPrs193922483
23andMers193922483
SNPshotrs193922483
SNPdbers193922483
MSV3drs193922483
GWAS Ctlgrs193922483
Max Magnitude0
ClinVar
Risk rs193922483(T;T)
Alt rs193922483(T;T)
Reference Rs193922483(C;C)
Significance Probable-Pathogenic
Disease Familial hypoplastic
Variation info
Gene HNF1B
CLNDBN Familial hypoplastic, glomerulocystic kidney
Reversed 1
HGVS NC_000017.10:g.36104736G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000030521.1,