Annotation Detail

Information
Associated Genes
MC4R
Associated Variants
rs12970134
rs4450508
MLXIPL p.Gln241His (p.Q241H) ( ENST00000313375.8, ENST00000354613.5, ENST00000414749.6, ENST00000429400.6, ENST00000434326.5 )
rs12970134
rs4450508
MLXIPL p.Gln241His (p.Q241H) ( ENST00000313375.8, ENST00000354613.5, ENST00000414749.6, ENST00000429400.6, ENST00000434326.5 )
Associated Disease
Diabetes Mellitus, Non-Insulin-Dependent
Source Database
DisGeNET
Description
Here, we evaluated the association of two variants (rs12970134 and rs4450508) near MC4R and a nonsynonymous (Gln241His) variant (rs3812316) in MLXIPL gene with type 2 diabetes (T2D) and obesity-related QTs in our case-control cohort (n = 1,528; 745 T2D cases and 783 controls) from a Sikh population from North India.
Pubmed
19680233
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0293705990997067
Year of publication
2010
Drugs