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rs193922479

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922479(C;T)
Make rs193922479(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44424116
GeneHNF4A
is asnp
is mentioned by
dbSNPrs193922479
ebirs193922479
HLIrs193922479
Exacrs193922479
Varsomers193922479
Maprs193922479
PheGenIrs193922479
hapmaprs193922479
1000 genomesrs193922479
hgdprs193922479
ensemblrs193922479
gopubmedrs193922479
geneviewrs193922479
scholarrs193922479
googlers193922479
pharmgkbrs193922479
gwascentralrs193922479
openSNPrs193922479
23andMers193922479
23andMe allrs193922479
SNP Nexus

SNPshotrs193922479
SNPdbers193922479
MSV3drs193922479
GWAS Ctlgrs193922479
Max Magnitude0
ClinVar
Risk rs193922479(T;T)
Alt rs193922479(T;T)
Reference rs193922479(C;C)
Significance Probable-Pathogenic
Disease Maturity-onset diabetes of the young Hyperinsulinemia
Variation info
Gene HNF4A
CLNDBN Maturity-onset diabetes of the young, type 1 Hyperinsulinemia
Reversed 0
HGVS NC_000020.10:g.43052756C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000030034.1, RCV000193933.1,


[PMID 16917892] Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.