Annotation Detail
Information
- Associated Genes
- GNB3
- Associated Variants
-
P3H3 p.Ter685Glnext*? (p.*685Qext*?)
(
ENST00000290510.10 )
GNB3 p.Ser275= (p.S275=) ( ENST00000435982.6, ENST00000229264.8, ENST00000422785.7 )
FTO c.46-27777C>A ( ENST00000637001.1, ENST00000637969.1, ENST00000471389.6, ENST00000636218.1, ENST00000636491.1 )
P3H3 p.Ile685Thr (p.I685T) ( ENST00000290510.10 )
GNB3 p.Ser275= (p.S275=) ( ENST00000229264.8, ENST00000435982.6, ENST00000422785.7 )
FTO c.46-27777C>A ( ENST00000471389.6, ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1 ) - Associated Disease
- vitelliform macular dystrophy
- Source Database
- DisGeNET
- Description
- The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs5443C/T emerged as the best disease conferring model.
- Pubmed
- 23691120
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs