Annotation Detail
Information
- Associated Genes
- SPG7
- Associated Variants
-
CYP2B6 c.485-18C>T
(
ENST00000324071.10,
ENST00000593831.1 )
CYP2B6 p.Gln172= (p.Q172=) ( ENST00000324071.10, ENST00000593831.1 )
CYP2B6 p.Gln172His (p.Q172H) ( ENST00000324071.10, ENST00000593831.1 )
NR1I3 p.Pro180= (p.P180=) ( ENST00000515452.1, ENST00000367983.9, ENST00000506209.5, ENST00000504010.5, ENST00000508387.5, ENST00000367984.8, ENST00000511748.5, ENST00000442691.6, ENST00000508740.5, ENST00000367982.8, ENST00000367981.7, ENST00000428574.6, ENST00000437437.6, ENST00000628566.2, ENST00000367985.7, ENST00000502985.5, ENST00000367980.6, ENST00000412844.6, ENST00000511676.5, ENST00000505005.5, ENST00000512372.5, ENST00000511944.5, ENST00000367979.6, ENST00000515621.5 )
NR1I3 c.239-1089T>C ( ENST00000367982.8, ENST00000367981.7, ENST00000508740.5, ENST00000511748.5, ENST00000442691.6, ENST00000367984.8, ENST00000508387.5, ENST00000504010.5, ENST00000506209.5, ENST00000367983.9, ENST00000515452.1, ENST00000511944.5, ENST00000515621.5, ENST00000367979.6, ENST00000512372.5, ENST00000505005.5, ENST00000511676.5, ENST00000412844.6, ENST00000367980.6, ENST00000502985.5, ENST00000367985.7, ENST00000628566.2, ENST00000437437.6, ENST00000428574.6 )
CYP2B6 c.485-18C>T ( ENST00000324071.10, ENST00000593831.1 )
CYP2B6 p.Gln172= (p.Q172=) ( ENST00000324071.10, ENST00000593831.1 )
CYP2B6 p.Gln172His (p.Q172H) ( ENST00000324071.10, ENST00000593831.1 )
NR1I3 p.Pro180= (p.P180=) ( ENST00000367979.6, ENST00000367980.6, ENST00000367981.7, ENST00000367982.8, ENST00000367983.9, ENST00000367984.8, ENST00000367985.7, ENST00000412844.6, ENST00000428574.6, ENST00000437437.6, ENST00000442691.6, ENST00000502985.5, ENST00000504010.5, ENST00000505005.5, ENST00000506209.5, ENST00000508387.5, ENST00000508740.5, ENST00000511676.5, ENST00000511748.5, ENST00000511944.5, ENST00000512372.5, ENST00000515452.1, ENST00000515621.5, ENST00000628566.2 )
NR1I3 c.239-1089T>C ( ENST00000367979.6, ENST00000367980.6, ENST00000367981.7, ENST00000367982.8, ENST00000367983.9, ENST00000367984.8, ENST00000367985.7, ENST00000412844.6, ENST00000428574.6, ENST00000437437.6, ENST00000442691.6, ENST00000502985.5, ENST00000504010.5, ENST00000505005.5, ENST00000506209.5, ENST00000508387.5, ENST00000508740.5, ENST00000511676.5, ENST00000511748.5, ENST00000511944.5, ENST00000512372.5, ENST00000515452.1, ENST00000515621.5, ENST00000628566.2 ) - Associated Disease
- HIV Infections
- Source Database
- DisGeNET
- Description
- In this study, we investigated the effects of CYP2B6 516G>T (rs3745274), CYP2B6 c.485-18C>T (rs4803419), CAR c.540C>T (rs2307424), CAR c.152-1089T>C (rs3003596), and smoking status in a cohort of Serbian patients with HIV.
- Pubmed
- 24831655
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2015
Drugs