Annotation Detail
Information
- Associated Genes
- APOB
- Associated Variants
-
SELE p.Ser149Arg (p.S149R)
(
ENST00000333360.12,
ENST00000367775.5,
ENST00000367777.5,
ENST00000367776.5,
ENST00000367774.1 )
NFKB1 c.-8+3394T>C ( ENST00000507079.6, ENST00000509165.2, ENST00000505458.5, ENST00000394820.8, ENST00000226574.9 )
NFKB1 c.160-1430G>T ( ENST00000507079.6, ENST00000226574.9, ENST00000505458.5, ENST00000509165.2, ENST00000394820.8 )
NFKB1 c.258+1994A>G ( ENST00000226574.9, ENST00000394820.8, ENST00000505458.5, ENST00000507079.6, ENST00000509165.2 )
NFKB1 c.258+4215C>G ( ENST00000509165.2, ENST00000226574.9, ENST00000505458.5, ENST00000394820.8, ENST00000507079.6 )
NFKB1 c.927+191C>T ( ENST00000226574.9, ENST00000394820.8, ENST00000505458.5, ENST00000507079.6, ENST00000509165.2 )
NFKB1 c.2750-149C>T ( ENST00000505458.5, ENST00000394820.8, ENST00000226574.9, ENST00000507079.6, ENST00000509165.2 )
FGB p.Arg478Lys (p.R478K) ( ENST00000302068.9, ENST00000509493.1 )
VEGFA c.1218-919C>T ( ENST00000230480.10, ENST00000324450.11, ENST00000372055.9, ENST00000372064.9, ENST00000372067.8, ENST00000372077.8, ENST00000413642.8, ENST00000417285.7, ENST00000425836.9, ENST00000457104.6, ENST00000482630.7, ENST00000518689.5, ENST00000518824.5, ENST00000520948.5, ENST00000523125.5, ENST00000523873.5, ENST00000523950.5, ENST00000672860.3 )
SELE p.Ser149Arg (p.S149R) ( ENST00000333360.12, ENST00000367774.1, ENST00000367775.5, ENST00000367776.5, ENST00000367777.5 )
NFKB1 c.-8+3394T>C ( ENST00000226574.9, ENST00000394820.8, ENST00000505458.5, ENST00000507079.6, ENST00000509165.2 )
NFKB1 c.160-1430G>T ( ENST00000226574.9, ENST00000394820.8, ENST00000505458.5, ENST00000507079.6, ENST00000509165.2 )
NFKB1 c.258+1994A>G ( ENST00000226574.9, ENST00000394820.8, ENST00000505458.5, ENST00000507079.6, ENST00000509165.2 )
NFKB1 c.258+4215C>G ( ENST00000226574.9, ENST00000394820.8, ENST00000505458.5, ENST00000507079.6, ENST00000509165.2 )
NFKB1 c.927+191C>T ( ENST00000226574.9, ENST00000394820.8, ENST00000505458.5, ENST00000507079.6, ENST00000509165.2 )
NFKB1 c.2750-149C>T ( ENST00000226574.9, ENST00000394820.8, ENST00000505458.5, ENST00000507079.6, ENST00000509165.2 )
FGB p.Arg478Lys (p.R478K) ( ENST00000302068.9, ENST00000509493.1 )
VEGFA c.1218-919C>T ( ENST00000230480.10, ENST00000324450.11, ENST00000372055.9, ENST00000372064.9, ENST00000372067.8, ENST00000372077.8, ENST00000413642.8, ENST00000417285.7, ENST00000425836.9, ENST00000457104.6, ENST00000482630.7, ENST00000518689.5, ENST00000518824.5, ENST00000520948.5, ENST00000523125.5, ENST00000523873.5, ENST00000523950.5, ENST00000672860.3 ) - Associated Disease
- coronary artery disease
- Source Database
- DisGeNET
- Description
- Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs230521, rs1005819 and rs1609798 (intronic, NFKB1) with APOB; rs5361 (Missense, R greatr than S, SELE) and rs4648004 (Intronic, NFKB1) with FBG; rs4220 (Missense, K greater than R, FGB) with HCY; and rs3025035 (Intronic, VEGFA) with CHOL-H. SNPs in SELE, VEGFA, FGB and NFKB1 genes impact significantly on levels of quantitative precursors of CAD in Marwaris.
- Pubmed
- 22116284
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0589651516347138
- Year of publication
- 2011
Drugs