Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853238
rs137853238
A 0.700 CausalMutation CLINVAR Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype. 19150152

2009

dbSNP: rs137853238
rs137853238
A 0.700 CausalMutation CLINVAR Homeodomain revisited: a lesson from disease-causing mutations. 15726414

2005

dbSNP: rs137853238
rs137853238
A 0.700 CausalMutation CLINVAR Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences. 11463573

2001

dbSNP: rs137853238
rs137853238
A 0.700 CausalMutation CLINVAR Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations. 10585442

1999

dbSNP: rs137853238
rs137853238
A 0.700 CausalMutation CLINVAR Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM. 9313763

1997

dbSNP: rs137853238
rs137853238
A 0.700 CausalMutation CLINVAR Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. 9032114

1997