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rs193922578

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922578(-;-)
Make rs193922578(-;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position120978898
GeneHNF1A
is asnp
is mentioned by
dbSNPrs193922578
ebirs193922578
HLIrs193922578
Exacrs193922578
Varsomers193922578
Maprs193922578
PheGenIrs193922578
hapmaprs193922578
1000 genomesrs193922578
hgdprs193922578
ensemblrs193922578
gopubmedrs193922578
geneviewrs193922578
scholarrs193922578
googlers193922578
pharmgkbrs193922578
gwascentralrs193922578
openSNPrs193922578
23andMers193922578
23andMe allrs193922578
SNP Nexus

SNPshotrs193922578
SNPdbers193922578
MSV3drs193922578
GWAS Ctlgrs193922578
Max Magnitude0
ClinVar
Risk rs193922578(;)
Alt rs193922578(;)
Reference rs193922578(C;C)
Significance 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.121416701delC
CLNSRC ClinVar LabCorp
CLNACC RCV000030478.1,


[PMID 12453976] Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect.