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rs193922598

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922598(C;T)
Make rs193922598(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position120993591
GeneHNF1A
is asnp
is mentioned by
dbSNPrs193922598
ebirs193922598
HLIrs193922598
Exacrs193922598
Varsomers193922598
Maprs193922598
PheGenIrs193922598
hapmaprs193922598
1000 genomesrs193922598
hgdprs193922598
ensemblrs193922598
gopubmedrs193922598
geneviewrs193922598
scholarrs193922598
googlers193922598
pharmgkbrs193922598
gwascentralrs193922598
openSNPrs193922598
23andMers193922598
23andMe allrs193922598
SNP Nexus

SNPshotrs193922598
SNPdbers193922598
MSV3drs193922598
GWAS Ctlgrs193922598
Max Magnitude0
ClinVar
Risk rs193922598(T;T)
Alt rs193922598(T;T)
Reference rs193922598(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.121431394C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000030505.1,


[PMID 120502] [Current information on treatment and prophylaxis of malaria (author's transl)].


[PMID 9754819] Mutation screening in 18 Caucasian families suggest the existence of other MODY genes.


[PMID 12453420] Diabetes mutations delineate an atypical POU domain in HNF-1alpha.


[PMID 15726414OA-icon.png] Homeodomain revisited: a lesson from disease-causing mutations.


[PMID 16274290] Functional dissection of the HNF-1alpha transcription factor: a study on nuclear localization and transcriptional activation.


[PMID 17924661OA-icon.png] Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta.