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
FTO c.45+31536G>A ( ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1, ENST00000471389.6 )
NPC1 p.His215Arg (p.H215R) ( ENST00000269228.10 )
rs17782313
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
FTO c.45+31536G>A ( ENST00000471389.6, ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1 )
NPC1 p.His215Arg (p.H215R) ( ENST00000269228.10 )
rs17782313
rs10938397
Associated Disease
obesity
Source Database
DisGeNET
Description
Among those previously identified SNPs, we selected six (rs7138803, rs1805081, rs6499640, rs17782313, rs6265, and rs10938397, in or near obesity-related genes FAIM2, NPC1, FTO, MC4R, BDNF, and GNPDA2, respectively) because of the relatively high minor allele frequencies in Chinese individuals and tested the associations of the SNPs with BMI and obesity in Chinese children.
Pubmed
20843981
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.152942950698469
Year of publication
2010
Drugs