Annotation Detail
Information
- Associated Genes
- LPA
- Associated Variants
-
LPA MUTATION
LPA MUTATION
IL19 c.-149+1984T>G ( ENST00000659642.2, ENST00000659997.3, ENST00000656872.2, ENST00000659065.2, ENST00000664374.2 )
IL19 c.-149+2474T>C ( ENST00000656872.2, ENST00000659642.2, ENST00000659997.3, ENST00000664374.2, ENST00000659065.2 )
rs6725189
APOB p.Glu4181Ter (p.E4181*) ( ENST00000233242.5 )
APOB p.Glu4181Lys (p.E4181K) ( ENST00000233242.5 )
LPA c.3947+467T>C ( ENST00000316300.10 )
IL19 c.-149+1984T>G ( ENST00000659065.2, ENST00000659642.2, ENST00000664374.2, ENST00000656872.2, ENST00000659997.3 )
IL19 c.-149+2474T>C ( ENST00000659065.2, ENST00000659642.2, ENST00000664374.2, ENST00000656872.2, ENST00000659997.3 )
rs6725189
APOB p.Glu4181Ter (p.E4181*) ( ENST00000233242.5 )
APOB p.Glu4181Lys (p.E4181K) ( ENST00000233242.5 )
LPA c.3947+467T>C ( ENST00000316300.10 ) - Associated Disease
- Calcific stenosis
- Source Database
- DisGeNET
- Description
- It is possible to conclude that apoB (XbaI, rs1042031, and rs6725189), ACE (rs4340), IL10 (rs1800896 and rs1800872), and LPA (rs10455872) gene polymorphisms may be associated with valvular calcific stenosis with a relatively high level of evidence.
- Pubmed
- 24903972
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs