Annotation Detail

Information
Associated Genes
CLEC16A
Associated Variants
NC_000010.11:g.6080046T>A
CLEC16A c.2116+14804T>G ( ENST00000409552.4, ENST00000409790.6, ENST00000703130.1 )
NLRP1 p.Leu155His (p.L155H) ( ENST00000699613.1, ENST00000571307.2, ENST00000262467.11, ENST00000699707.1, ENST00000699634.1, ENST00000576905.6, ENST00000354411.8, ENST00000617618.5, ENST00000699633.1, ENST00000269280.9, ENST00000699614.1, ENST00000699712.1, ENST00000572272.6, ENST00000699626.1, ENST00000699710.1, ENST00000577119.5, ENST00000571451.7 )
NC_000010.11:g.6080046T>A
CLEC16A c.2116+14804T>G ( ENST00000409552.4, ENST00000409790.6, ENST00000703130.1 )
NLRP1 p.Leu155His (p.L155H) ( ENST00000262467.11, ENST00000269280.9, ENST00000354411.8, ENST00000571307.2, ENST00000571451.7, ENST00000572272.6, ENST00000576905.6, ENST00000577119.5, ENST00000617618.5, ENST00000699613.1, ENST00000699614.1, ENST00000699626.1, ENST00000699633.1, ENST00000699634.1, ENST00000699707.1, ENST00000699710.1, ENST00000699712.1 )
Associated Disease
Diabetes Mellitus, Insulin-Dependent
Source Database
DisGeNET
Description
Our results demonstrated that IL2RA rs11594656 and CLEC16A rs725613 are protective factors of T1D, while NLRP1 rs12150220 and APOA5 -1131T/C are risky factors of T1D and T2D, respectively.
Pubmed
23922971
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.280934317120636
Year of publication
2013
Drugs