Annotation Detail
Information
- Associated Genes
- NPCA1
- Associated Variants
-
PTER SNV
rs1424233
NPC1 p.His215Arg (p.H215R) ( ENST00000269228.10 )
rs4712652
PTER SNV
rs1424233
NPC1 p.His215Arg (p.H215R) ( ENST00000269228.10 )
rs4712652 - Associated Disease
- Overweight
- Source Database
- DisGeNET
- Description
- In each study, we tested associations of rs4712652 (near-PRL), rs10508503 (near-PTER), rs1424233 (near-MAF) and rs1805081 (NPC1), or proxy variants (r (2)>0.8), with the odds of being overweight and obese, as well as with body mass index (BMI), percentage body fat (%BF) and waist circumference (WC).
- Pubmed
- 22430306
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs