Annotation Detail
Information
- Associated Genes
- CYP2R1
- Associated Variants
-
CYP2R1 c.226-2771T>C
(
ENST00000334636.10,
ENST00000532378.5 )
rs10741657
NADSYN1 c.86-531A>G ( ENST00000319023.7 )
NADSYN1 c.146+1233G>T ( ENST00000319023.7 )
GC c.*26-796A>C ( ENST00000273951.13, ENST00000504199.5, ENST00000513476.5 )
CYP2R1 c.226-2771T>C ( ENST00000334636.10, ENST00000532378.5 )
rs10741657
NADSYN1 c.86-531A>G ( ENST00000319023.7 )
NADSYN1 c.146+1233G>T ( ENST00000319023.7 )
GC c.*26-796A>C ( ENST00000273951.13, ENST00000504199.5, ENST00000513476.5 ) - Associated Disease
- Hepatitis C, Chronic
- Source Database
- DisGeNET
- Description
- The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs2282679), and DHCR7 (rs7944926, rs12785878) genotypes and 25(OH)D3 serum levels were also apparent in patients with chronic hepatitis C. The same genotypes of these single nucleotide polymorphisms (SNPs) that are associated with reduced 25(OH)D3 serum levels were found to be associated with HCV-related HCC (P = 0.07 [OR = 1.13, 95% CI = 0.99-1.28] for CYP2R1, P = 0.007 [OR = 1.56, 95% CI = 1.12-2.15] for GC, P = 0.003 [OR = 1.42, 95% CI = 1.13-1.78] for DHCR7; ORs for risk genotypes).
- Pubmed
- 23734184
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs