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rs193922597

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 3.6 Mature onset diabetes of the young (type 3)
(C;C) 0 common in clinvar


Make rs193922597(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position120988947
GeneHNF1A
is asnp
is mentioned by
dbSNPrs193922597
dbSNP (classic)rs193922597
ClinGenrs193922597
ebirs193922597
HLIrs193922597
Exacrs193922597
Gnomadrs193922597
Varsomers193922597
LitVarrs193922597
Maprs193922597
PheGenIrs193922597
Biobankrs193922597
1000 genomesrs193922597
hgdprs193922597
ensemblrs193922597
geneviewrs193922597
scholarrs193922597
googlers193922597
pharmgkbrs193922597
gwascentralrs193922597
openSNPrs193922597
23andMers193922597
SNPshotrs193922597
SNPdbers193922597
MSV3drs193922597
GWAS Ctlgrs193922597
Max Magnitude3.6
ClinVar
Risk rs193922597(A;A)
Alt rs193922597(A;A)
Reference Rs193922597(C;C)
Significance Probable-Pathogenic
Disease Maturity-onset diabetes of the young
Variation info
Gene HNF1A
CLNDBN Maturity-onset diabetes of the young, type 3
Reversed 0
HGVS NC_000012.11:g.121426750C>A
CLNSRC ClinVar LabCorp
CLNACC RCV000030502.1,