Annotation Detail
Information
- Associated Genes
- BDNF
- 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
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 - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann-Pick disease, type C1 rs1805081, fat mass- and obesity-associated gene rs6499640, melanocortin 4 receptor gene rs17782313, and brain-derived neurotrophic factor rs6265) and obesity risk was only observed in children who had moderate-to-low physical activity levels or engaged in sedentary behavior, regardless of which risk alleles they carried.
- Pubmed
- 21527513
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.158719174882276
- Year of publication
- 2011
Drugs