Annotation Detail
Information
- Associated Genes
- SCNN1A
- Associated Variants
-
SCNN1A p.Trp552Arg (p.W552R)
(
ENST00000540037.5,
ENST00000396966.6,
ENST00000228916.7,
ENST00000543768.1,
ENST00000360168.7 )
SCNN1A p.Trp552Arg (p.W552R) ( ENST00000228916.7, ENST00000360168.7, ENST00000396966.6, ENST00000540037.5, ENST00000543768.1 ) - Associated Disease
- Metabolic syndrome X
- Source Database
- DisGeNET
- Description
- Effect modification of the SCNN1A rs5742912 on the MetS by hormone therapy use warrants further investigation.
- Pubmed
- 19619703
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2009
Drugs