Annotation Detail
Information
- Associated Genes
- TPH1
- Associated Variants
-
TPH1 MUTATION
TPH1 MUTATION
TPH1 c.803+221C>A ( ENST00000250018.6, ENST00000682019.1, ENST00000528338.2, ENST00000714230.1 )
TPH1 c.117+1840G>A ( ENST00000250018.6, ENST00000682019.1, ENST00000714230.1, ENST00000528338.2 )
rs4537731
TPH1 c.803+221C>A ( ENST00000250018.6, ENST00000528338.2, ENST00000682019.1, ENST00000714230.1 )
TPH1 c.117+1840G>A ( ENST00000250018.6, ENST00000528338.2, ENST00000682019.1, ENST00000714230.1 )
rs4537731 - Associated Disease
- Ichthyosis bullosa of Siemens
- Source Database
- DisGeNET
- Description
- However, TPH1 gene SNPs were associated with IBS-related cognitions (rs4537731 and rs21105) and quality of life (rs684302 and rs1800532), in particular the mental health and energy subscales.
- Pubmed
- 23172723
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2014
Drugs