Annotation Detail

Information
Associated Genes
TSPAN8
Associated Variants
KCNJ11 p.Val337Ile (p.V337I) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
TSPAN8 c.-110+8029G>A ( ENST00000393330.6 )
NC_000001.11:g.55030366T>C
KCNJ11 p.Val337Ile (p.V337I) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
TSPAN8 c.-110+8029G>A ( ENST00000393330.6 )
NC_000001.11:g.55030366T>C
Associated Disease
diabetes mellitus
Source Database
DisGeNET
Description
We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSPAN8 and LGR5) and rs5215 (p = 0.043; KCNJ11), the LDL risk variant rs11206510 (p = 0.045; PCSK9), as well as the AF risk locus ZFHX3.
Pubmed
24135527
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00581983144552528
Year of publication
2013
Drugs