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rs193922602

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922602(G;T)
Make rs193922602(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position120994181
GeneHNF1A
is asnp
is mentioned by
dbSNPrs193922602
ebirs193922602
HLIrs193922602
Exacrs193922602
Varsomers193922602
Maprs193922602
PheGenIrs193922602
hapmaprs193922602
1000 genomesrs193922602
hgdprs193922602
ensemblrs193922602
gopubmedrs193922602
geneviewrs193922602
scholarrs193922602
googlers193922602
pharmgkbrs193922602
gwascentralrs193922602
openSNPrs193922602
23andMers193922602
23andMe allrs193922602
SNP Nexus

SNPshotrs193922602
SNPdbers193922602
MSV3drs193922602
GWAS Ctlgrs193922602
Max Magnitude0
ClinVar
Risk rs193922602(T;T)
Alt rs193922602(T;T)
Reference rs193922602(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.121431984G>T
CLNSRC ClinVar LabCorp
CLNACC RCV000030509.1,


[PMID 21224407] Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.