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rs193922587

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922587(C;T)
Make rs193922587(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position120999522
GeneHNF1A
is asnp
is mentioned by
dbSNPrs193922587
ebirs193922587
HLIrs193922587
Exacrs193922587
Varsomers193922587
Maprs193922587
PheGenIrs193922587
hapmaprs193922587
1000 genomesrs193922587
hgdprs193922587
ensemblrs193922587
gopubmedrs193922587
geneviewrs193922587
scholarrs193922587
googlers193922587
pharmgkbrs193922587
gwascentralrs193922587
openSNPrs193922587
23andMers193922587
23andMe allrs193922587
SNP Nexus

SNPshotrs193922587
SNPdbers193922587
MSV3drs193922587
GWAS Ctlgrs193922587
Max Magnitude0
ClinVar
Risk rs193922587(T;T)
Alt rs193922587(T;T)
Reference rs193922587(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.121437325C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000030488.1,


[PMID 18003757] The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3.