Research
Tag

Carcinogen Metabolism

16 genetic variants with this tag.

RSID Gene Description Category
rs1229984 ADH1B His48Arg ADH1B variant encoding a ~100x faster alcohol dehydrogenase enzyme, causing r... Mood & Behavior Established
rs1693482 ADH1C Arg272Gln (ADH1C*1/*2) ADH1C variant defining the fast (ADH1C*1, Arg272) vs slow (ADH1C*2, Gln272) a... Mood & Behavior Strong
rs2470890 CYP1A2 Asn516= (exon 7) Synonymous variant in CYP1A2 exon 7 in linkage disequilibrium with the *1F hi... Cancer Risk Strong
rs28936700 CYP1B1 Gly61Glu (G61E) Pathogenic missense variant in the cytochrome P450 1B1 enzyme that abolishes ... Vascular Inflammation & Remodeling Established
rs2031920 CYP2E1 *5B (RsaI) Promoter variant increasing CYP2E1 inducibility, elevating oxidative stress f... Pharmacogenomics Moderate
rs2070672 CYP2E1 CYP2E1 promoter variant affecting enzyme expression and susceptibility to ace... Pharmacogenomics Moderate
rs28399433 CYP2A6 *9 (TATA box) Promoter variant that reduces CYP2A6 expression by ~50%, slowing nicotine met... Pharmacogenomics Strong
rs366631 GSTM1 Tag SNP for gene deletion Tag SNP proxy for GSTM1 gene deletion status — the most common pharmacogenomi... Methylation & Detox Strong
rs4646976 CYP2E1 CYP2E1 intronic haplotype tag — affects enzyme activity and susceptibility to... Pharmacogenomics Moderate
rs71748309 GSTT1 Null (Gene Deletion) Complete deletion of the GSTT1 gene eliminating glutathione conjugation capac... Methylation & Detox Strong
rs55897648 CYP2E1 *3 (Val389Ile) CYP2E1*3 missense variant with no demonstrated change in enzyme activity for ... Pharmacogenomics Emerging
rs6413419 CYP2E1 *4 (V179I) Missense variant (Val179Ile) defining the CYP2E1*4 allele; associated with al... Pharmacogenomics Emerging
rs72547515 CYP1A2 *16 (Arg377Gln) Nearly-inactive CYP1A2 missense variant — carriers have severely impaired met... Pharmacogenomics Moderate
rs72547516 CYP1A2 Ile386Val Rare CYP1A2 missense variant (Ile386Val) associated with potentially reduced ... Pharmacogenomics Emerging
rs72547517 CYP1A2 *8 CYP1A2*8 — near-complete loss-of-function missense variant causing severely r... Pharmacogenomics Strong
rs8192780 CYP2E1 Downstream regulatory variant near CYP2E1 associated with nasopharyngeal carc... Pharmacogenomics Emerging