Annotation Detail
Information
- Associated Genes
- CYP1A1
- Associated Variants
-
CYP1A1 p.Ile462Phe (p.I462F)
(
ENST00000617691.4,
ENST00000395049.8,
ENST00000379727.8,
ENST00000567032.5,
ENST00000395048.6 )
CYP1A1 p.Ile462Val (p.I462V) ( ENST00000617691.4, ENST00000567032.5, ENST00000379727.8, ENST00000395049.8, ENST00000395048.6 )
CYP1A1 p.Ile462Leu (p.I462L) ( ENST00000395048.6, ENST00000617691.4, ENST00000395049.8, ENST00000379727.8, ENST00000567032.5 )
CYP1A1 c.-30+606G>T ( ENST00000564596.5, ENST00000395048.6, ENST00000567032.5, ENST00000395049.8, ENST00000379727.8, ENST00000617691.4 )
CYP1A1 p.Ile462Phe (p.I462F) ( ENST00000379727.8, ENST00000395048.6, ENST00000395049.8, ENST00000567032.5, ENST00000617691.4 )
CYP1A1 p.Ile462Val (p.I462V) ( ENST00000379727.8, ENST00000395048.6, ENST00000395049.8, ENST00000567032.5, ENST00000617691.4 )
CYP1A1 p.Ile462Leu (p.I462L) ( ENST00000379727.8, ENST00000395048.6, ENST00000395049.8, ENST00000567032.5, ENST00000617691.4 )
CYP1A1 c.-30+606G>T ( ENST00000379727.8, ENST00000395048.6, ENST00000395049.8, ENST00000564596.5, ENST00000567032.5, ENST00000617691.4 ) - Associated Disease
- Carcinoma of ampulla of Vater
- Source Database
- DisGeNET
- Description
- The CYP1A1 IVS1 + 606 (rs2606345) T allele was associated with gallbladder [odds ratio (OR) = 2.0, 95% confidence interval (CI), 1.3-3.0] and bile duct cancers (OR = 1.8, 95% CI = 1.1-3.1), whereas the CYP1A1 Ex7 + 131 (rs1048943) G allele was associated with ampulla of Vater cancer (OR = 2.9, 95% CI = 1.5-5.4).
- Pubmed
- 19168589
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2009
Drugs