Annotation Detail

Information
Associated Genes
RPL37
Associated Variants
HNF1A c.327-2680C>T ( ENST00000541395.5, ENST00000544413.2, ENST00000400024.6, ENST00000257555.11 )
HNF1A c.327-1775A>G ( ENST00000544413.2, ENST00000400024.6, ENST00000257555.11, ENST00000541395.5 )
HNF1A p.Leu459= (p.L459=) ( ENST00000541395.5, ENST00000544413.2, ENST00000400024.6, ENST00000257555.11 )
HNF1A p.Ser487Asn (p.S487N) ( ENST00000544413.2, ENST00000541395.5, ENST00000257555.11, ENST00000400024.6 )
HNF1A c.327-2680C>T ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A c.327-1775A>G ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Leu459= (p.L459=) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Ser487Asn (p.S487N) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
Associated Disease
Diabetes Mellitus, Non-Insulin-Dependent
Source Database
DisGeNET
Description
The rs2259820_T (1.14 (1.03-1.26); P = 0.011) and rs2464196_C (1.12 (1.02-1.24); P = 0.024) were associated with type 2 diabetes mellitus (T2DM), while the rs2393791_T (1.14 (1.01-1.28); P = 0.032), rs7310409_G (1.16 (1.03-1.30); P = 0.013), and rs2464196_AG+GG (1.25 (1.05-1.49); P = 0.012) were implicated in hypertension.
Pubmed
25057215
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs