Annotation Detail

Information
Associated Genes
AGER
Associated Variants
rs17493811 ( ENST00000336984.6, ENST00000395497.5 )
RNF5 c.140+229G>C ( ENST00000375094.4 )
AGER p.Gly82Ser (p.G82S) ( ENST00000375055.6, ENST00000375067.7, ENST00000375069.7, ENST00000375070.7, ENST00000375076.9, ENST00000438221.6, ENST00000538695.2 )
rs17493811 ( ENST00000336984.6, ENST00000395497.5 )
RNF5 c.140+229G>C ( ENST00000375094.4 )
AGER p.Gly82Ser (p.G82S) ( ENST00000375055.6, ENST00000375067.7, ENST00000375069.7, ENST00000375070.7, ENST00000375076.9, ENST00000438221.6, ENST00000538695.2 )
Associated Disease
Diabetes
Source Database
DisGeNET
Description
Three SNPs of AGER, previously associated with HLA-DR/DQ haplotype independent diabetes risk (rs2070600, rs9469089, and rs17493811), were analyzed in 1,390 affected subjects.
Pubmed
24742661
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00325730246496364
Year of publication
2014
Drugs