Annotation Detail

Information
Associated Genes
CLEC16A
Associated Variants
CLEC16A c.2116+24994A>G ( ENST00000409790.6, ENST00000703130.1, ENST00000409552.4 )
CD226 p.Ser307Cys (p.S307C) ( ENST00000280200.8, ENST00000577287.5, ENST00000581982.5, ENST00000582621.6 )
CD226 p.Ser307Gly (p.S307G) ( ENST00000280200.8, ENST00000577287.5, ENST00000581982.5, ENST00000582621.6 )
CLEC16A c.2116+24994A>G ( ENST00000409552.4, ENST00000409790.6, ENST00000703130.1 )
CD226 p.Ser307Cys (p.S307C) ( ENST00000280200.8, ENST00000577287.5, ENST00000581982.5, ENST00000582621.6 )
CD226 p.Ser307Gly (p.S307G) ( ENST00000280200.8, ENST00000577287.5, ENST00000581982.5, ENST00000582621.6 )
Associated Disease
multiple sclerosis
Source Database
DisGeNET
Description
Two of these seven SNPs showed evidence of association with multiple sclerosis; that is rs12708716 from the CLEC16A gene (P=1.6 x 10(-16)) and rs763361 from the CD226 gene (P=5.4 x 10(-8)).
Pubmed
18987646
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.282115892522407
Year of publication
2009
Drugs