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rs193922604

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922604(G;T)
Make rs193922604(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position120994240
GeneHNF1A
is asnp
is mentioned by
dbSNPrs193922604
ebirs193922604
HLIrs193922604
Exacrs193922604
Varsomers193922604
Maprs193922604
PheGenIrs193922604
hapmaprs193922604
1000 genomesrs193922604
hgdprs193922604
ensemblrs193922604
gopubmedrs193922604
geneviewrs193922604
scholarrs193922604
googlers193922604
pharmgkbrs193922604
gwascentralrs193922604
openSNPrs193922604
23andMers193922604
23andMe allrs193922604
SNP Nexus

SNPshotrs193922604
SNPdbers193922604
MSV3drs193922604
GWAS Ctlgrs193922604
Max Magnitude0
ClinVar
Risk rs193922604(T;T)
Alt rs193922604(T;T)
Reference rs193922604(G;G)
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.121432043G>T
CLNSRC ClinVar LabCorp
CLNACC RCV000030511.1,


[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.