Annotation Detail
Information
- Associated Genes
- APOB
- Associated Variants
-
APOB p.Thr2515= (p.T2515=)
(
ENST00000233242.5 )
Multiple alleles ( ENST00000309881.11, ENST00000435819.5, ENST00000534394.5 )
APOB p.Thr2515= (p.T2515=) ( ENST00000233242.5 )
Multiple alleles ( ENST00000309881.11, ENST00000435819.5, ENST00000534394.5 ) - Associated Disease
- Hypercholesterolemia
- Source Database
- DisGeNET
- Description
- Allele and genotype disease association test revealed that APOB rs693 (OR: 2.2 [1.5-3.2], p=0.0001) and CD36 rs1984112 (OR: 3.7 [1.9-7.0], p=0.0002) SNPs were independent risk factors for hypercholesterolemia.
- Pubmed
- 23247049
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.257793507754608
- Year of publication
- 2013
Drugs