Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.Ile27Leu (p.I27L)
(
ENST00000541395.5,
ENST00000257555.11,
ENST00000400024.6,
ENST00000544413.2 )
HNF1A p.Ala98Val (p.A98V) ( ENST00000400024.6, ENST00000257555.11, ENST00000544413.2, ENST00000541395.5 )
HNF1A p.Ser487Asn (p.S487N) ( ENST00000544413.2, ENST00000541395.5, ENST00000257555.11, ENST00000400024.6 )
HNF1A p.Ile27Leu (p.I27L) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Ala98Val (p.A98V) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Ser487Asn (p.S487N) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 ) - Associated Disease
- Impaired glucose tolerance
- Source Database
- DisGeNET
- Description
- The common variants p.I27L (rs1169288), p.A98V (rs1800574) and p.S487N (rs2464196) of the hepatocyte nuclear factor 1-α (HNF1A) gene have been inconsistently associated with impaired glucose tolerance and/or an increased risk of type 2 diabetes mellitus (T2DM).
- Pubmed
- 24933231
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00726291719771163
- Year of publication
- 2014
Drugs