Annotation Detail

Information
Associated Genes
GNPDA2
Associated Variants
BDNF p.Val148Met (p.V148M) ( ENST00000532997.5, ENST00000395981.7, ENST00000356660.9, ENST00000314915.6, ENST00000439476.6, ENST00000530861.5, ENST00000395983.7, ENST00000395986.6, ENST00000525950.5, ENST00000533246.5, ENST00000418212.5, ENST00000525528.1, ENST00000533131.5, ENST00000395978.7, ENST00000438929.5 )
NC_000012.12:g.49853685G>A
rs10938397
BDNF p.Val148Met (p.V148M) ( ENST00000314915.6, ENST00000356660.9, ENST00000395978.7, ENST00000395981.7, ENST00000395983.7, ENST00000395986.6, ENST00000418212.5, ENST00000438929.5, ENST00000439476.6, ENST00000525528.1, ENST00000525950.5, ENST00000530861.5, ENST00000532997.5, ENST00000533131.5, ENST00000533246.5 )
NC_000012.12:g.49853685G>A
rs10938397
Associated Disease
Metabolic syndrome X
Source Database
DisGeNET
Description
Of 11 SNPs, GNPDA2 rs10938397, BDNF rs6265, and FAIM2 rs7138803 were nominally associated with risk of MetS (GNPDA2 rs10938397: odds ratio (OR)=1.21, 95% confidence interval (CI)=1.04-1.40, P=0.016; BDNF rs6265: OR=1.19, 95% CI=1.03-1.39, P=0.021; FAIM2 rs7138803: OR=1.20, 95% CI=1.02-1.40, P=0.025); genetic risk score (GRS) was significantly associated with risk of MetS (OR=1.09, 95% CI=1.04-1.15, P=5.26×10(-4)).
Pubmed
24269186
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2013
Drugs