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rs193922588

From SNPedia

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


Make rs193922588(-;-)
ReferenceGRCh38 38.1/141
Chromosome12
Position120978937
GeneHNF1A
is asnp
is mentioned by
dbSNPrs193922588
dbSNP (classic)rs193922588
ClinGenrs193922588
ebirs193922588
HLIrs193922588
Exacrs193922588
Gnomadrs193922588
Varsomers193922588
LitVarrs193922588
Maprs193922588
PheGenIrs193922588
Biobankrs193922588
1000 genomesrs193922588
hgdprs193922588
ensemblrs193922588
geneviewrs193922588
scholarrs193922588
googlers193922588
pharmgkbrs193922588
gwascentralrs193922588
openSNPrs193922588
23andMers193922588
SNPshotrs193922588
SNPdbers193922588
MSV3drs193922588
GWAS Ctlgrs193922588
Max Magnitude3.6
ClinVar
Risk rs193922588(-;-)
Alt rs193922588(-;-)
Reference Rs193922588(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.121416740delC
CLNSRC ClinVar LabCorp
CLNACC RCV000030489.1,