Annotation Detail
Information
- Associated Genes
- CYP1A1
- Associated Variants
-
CYP1A1 MUTATION
CYP1A1 MUTATION
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 p.Gly45Asp (p.G45D) ( ENST00000395048.6, ENST00000564596.5, ENST00000379727.8, ENST00000395049.8, ENST00000567032.5, ENST00000617691.4 )
COMT c.-922+35A>G ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
COMT p.Val158Met (p.V158M) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
CYP1B1 p.Val432= (p.V432=) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Ala119Ser (p.A119S) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
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 p.Gly45Asp (p.G45D) ( ENST00000379727.8, ENST00000395048.6, ENST00000395049.8, ENST00000564596.5, ENST00000567032.5, ENST00000617691.4 )
COMT c.-922+35A>G ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
COMT p.Val158Met (p.V158M) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
CYP1B1 p.Leu432Val (p.L432V) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Ala119Ser (p.A119S) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 ) - Associated Disease
- Uterine Fibroids
- Source Database
- DisGeNET
- Description
- The genetic polymorphism of rs3087869 (IVS1+2329C>T) (OR 3.200, 95% CI 1.614-6.345) and rs4680 (Val158Met) (OR 5.675, 95% CI 2.696-11.942) loci on COMT, rs1048943 (Ile462Val) (OR 4.629, 95% CI 2.216-9.672) and rs4646422 (Gly45Asp) (OR 3.240, 95% CI 1.624-6.461) loci on CYP1A1 and rs1065827 (Ala119Ser) (OR 5.635, 95% CI 2.990-10.619) locus on CYP1B1 were the risk factors to UL development and rs1056836 (Leu432Val) (OR 0.188, 95% CI 0.061-0.575) locus on CYB1B1 may be the protective factor to UL.
- Pubmed
- 24777039
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00372424133900355
- Year of publication
- 2014
Drugs