Annotation Detail
Information
- Associated Genes
- NR1D2
- Associated Variants
-
SLC28A2 p.Ser75Arg (p.S75R)
(
ENST00000347644.8 )
rs12980275
NC_000019.10:g.39252525T>G
AK4 c.145+19262T>C ( ENST00000395334.6, ENST00000545314.5, ENST00000546702.5, ENST00000327299.8 )
rs1884613
SLC28A2 p.Ser75Arg (p.S75R) ( ENST00000347644.8 )
rs12980275
NC_000019.10:g.39252525T>G
AK4 c.145+19262T>C ( ENST00000327299.8, ENST00000395334.6, ENST00000545314.5, ENST00000546702.5 )
rs1884613 - Associated Disease
- cryoglobulinemia
- Source Database
- DisGeNET
- Description
- Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 AA genotype and positively by Metavir score; Metavir score, insulin resistance and SLC28A2_rs1060896 CA/AA and HNF4α_rs1884613 CC genotypes were negative predictive factors of SVR, whereas HCV viral load at baseline and IL28B_rs12980275 AA and rs8099917 TT genotypes positively predicted this outcome; RVR was negatively predicted by insulin resistance and positively by cryoglobulinemia and IL28B_rs12980275 AA genotype; Metavir score and insulin resistance were able to negatively predict EVR, whereas cryoglobulinemia and IL28B_rs12980275 AA genotype positively predicted it; at last, virological relapse was negatively predicted by IL28B_rs8099917 TT and AK1_rs1109374 TT genotypes, insulin resistance was a positive predictor factor.
- Pubmed
- 25661337
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs