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rs193922593

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.6 Mature onset diabetes of the young (type 3)
Make rs193922593(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position120979049
GeneHNF1A
is asnp
is mentioned by
dbSNPrs193922593
dbSNP (classic)rs193922593
ClinGenrs193922593
ebirs193922593
HLIrs193922593
Exacrs193922593
Gnomadrs193922593
Varsomers193922593
LitVarrs193922593
Maprs193922593
PheGenIrs193922593
Biobankrs193922593
1000 genomesrs193922593
hgdprs193922593
ensemblrs193922593
geneviewrs193922593
scholarrs193922593
googlers193922593
pharmgkbrs193922593
gwascentralrs193922593
openSNPrs193922593
23andMers193922593
SNPshotrs193922593
SNPdbers193922593
MSV3drs193922593
GWAS Ctlgrs193922593
Max Magnitude3.6
ClinVar
Risk rs193922593(T;T)
Alt rs193922593(T;T)
Reference Rs193922593(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.121416852C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000030497.1,