Annotation Detail
Information
- Associated Genes
- HTT
- Associated Variants
-
HTT p.Val2786Ile (p.V2786I)
(
ENST00000355072.11,
ENST00000680956.1,
ENST00000681528.1 )
HTT p.Val2786Phe (p.V2786F) ( ENST00000355072.11, ENST00000680956.1, ENST00000681528.1 )
PTTG2 p.Arg44Pro (p.R44P), TBC1D1 c.418-53944G>C ( ENST00000504686.2, ENST00000261439.9, ENST00000508802.5, ENST00000698857.1 )
EVC p.Arg576Gln (p.R576Q) ( ENST00000264956.11 )
EVC p.Arg576Leu (p.R576L) ( ENST00000264956.11 )
WFS1 p.Arg611His (p.R611H) ( ENST00000503569.5, ENST00000506362.2, ENST00000226760.5, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
HTT p.Val2786Ile (p.V2786I) ( ENST00000355072.11, ENST00000680956.1, ENST00000681528.1 )
HTT p.Val2786Phe (p.V2786F) ( ENST00000355072.11, ENST00000680956.1, ENST00000681528.1 )
PTTG2 p.Arg44Pro (p.R44P), TBC1D1 c.418-53944G>C ( ENST00000504686.2, ENST00000261439.9, ENST00000508802.5, ENST00000698857.1 )
EVC p.Arg576Gln (p.R576Q) ( ENST00000264956.11 )
EVC p.Arg576Leu (p.R576L) ( ENST00000264956.11 )
WFS1 p.Arg611His (p.R611H) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 ) - Associated Disease
- Completed Suicide
- Source Database
- DisGeNET
- Description
- The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, and rs734312 in WFS1 gene were associated to the male completed suicide.
- Pubmed
- 19115052
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2009
Drugs