Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
HNF1A c.1501+119G>T
(
ENST00000544413.2,
ENST00000257555.11,
ENST00000400024.6,
ENST00000541395.5 )
rs646776
NC_000001.11:g.55030366T>C
rs12526453 ( ENST00000332995.12, ENST00000674595.1, ENST00000674637.1, ENST00000676159.1, ENST00000689548.1 )
NC_000009.12:g.22098575A>G
HNF1A c.1501+119G>T ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
rs646776
NC_000001.11:g.55030366T>C
rs12526453 ( ENST00000332995.12, ENST00000674595.1, ENST00000674637.1, ENST00000676159.1, ENST00000689548.1 )
NC_000009.12:g.22098575A>G - Associated Disease
- Coronary heart disease
- Source Database
- DisGeNET
- Description
- Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-PSRC1-SORT1), rs2259816 (HNF1A), and rs11206510 (PCSK9) showed directionally consistent associations with CHD in the 3 studies, with combined odds ratios (ORs) ranging from 1.17 to 1.25 (p = 0.03 to 0.0002).
- Pubmed
- 22152955
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0251457431466092
- Year of publication
- 2011
Drugs