Annotation Detail
Information
- Associated Genes
- SLC38A1
- 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 )
CYP2B6 c.*1421T>C ( ENST00000324071.10 )
NAT2 p.Gly286Glu (p.G286E) ( ENST00000286479.4, ENST00000520116.1 )
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 )
CYP2B6 c.*1421T>C ( ENST00000324071.10 )
NAT2 p.Gly286Glu (p.G286E) ( ENST00000286479.4, ENST00000520116.1 ) - Associated Disease
- male infertility
- Source Database
- DisGeNET
- Description
- Novel interactions were also observed between the MR of SEC and rs1042389 in CYP2B6, rs1048943 in CYP1A1, and rs1799931 in NAT2 on male infertility (P inter = 1.06 × 10(-4), 1.14 × 10(-3), 3.55 × 10(-3), respectively).
- Pubmed
- 24488272
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2014
Drugs