Tag
Cancer Risk
66 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs1001179 | CAT -262C>T | Catalase promoter variant affecting hydrogen peroxide clearance and antioxida... | Methylation & Detox | Strong | |
| rs1042602 | TYR S192Y | Common tyrosinase variant affecting melanin production, skin pigmentation, ta... | Skin & Eyes | Strong | |
| rs17879961 | CHEK2 I157T | Missense variant in the CHEK2 FHA domain that impairs phosphoprotein binding ... | Cancer Risk | Strong | |
| rs1041981 | LTA Thr26Asn (TNFB*2) | Missense variant in lymphotoxin-alpha, a TNF superfamily cytokine essential f... | Innate Immunity & Infection Defense | Moderate | |
| rs10766383 | NUCB2 | Intronic NUCB2 variant associated with type 2 diabetes risk in females and or... | Hormones & Sleep | Moderate | |
| rs1799782 | XRCC1 R194W | Missense variant in the linker region of XRCC1 that disrupts interaction with... | Cancer Risk | Strong | |
| rs1799977 | MLH1 Ile219Val | Missense variant in the MLH1 ATPase domain (c.655A>G, p.Ile219Val) that subst... | Gamete Quality & DNA Repair | Moderate | |
| rs10380 | MTRR His595Tyr | Missense variant in methionine synthase reductase that impairs B12 reactivati... | Methylation & Detox | Moderate | |
| rs10848087 | PIWIL1 PIWIL1 G>A (c.1128G>A) | Synonymous variant in PIWIL1 associated with increased epithelial ovarian can... | Fertility & Ovarian Function | Emerging | |
| rs1799793 | ERCC2 D312N | Missense variant in the XPD helicase that reduces nucleotide excision repair ... | Cancer Risk | Strong | |
| rs10936599 | TERC Near gene (3q26.2) | Near-TERC regulatory variant where the minor T allele associates with shorter... | Longevity & Aging | Established | |
| rs1143634 | IL1B +3954C>T | Synonymous exon 5 variant in IL-1β that increases IL-1β protein secretion des... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs12203592 | IRF4 T allele | Regulatory variant in IRF4 enhancer affecting melanocyte pigmentation, sun se... | Skin & Eyes | Strong | |
| rs1799950 | BRCA1 Q356R | Common missense variant near the BRCA1 RING finger domain; classified as beni... | Cancer Risk | Moderate | |
| rs12350739 | BNC2 Regulatory variant | Intergenic enhancer variant controlling BNC2 expression in melanocytes; deter... | Skin & Eyes | Strong | |
| rs1800734 | MLH1 -93G>A | Promoter variant in the MLH1 DNA mismatch repair gene that reduces transcript... | Cancer Risk | Strong | |
| rs2303428 | MSH2 | Splice-region variant in MSH2 (c.2006-6T>C) located 6 bases upstream of exon ... | Gamete Quality & DNA Repair | Moderate | |
| rs1136410 | PARP1 Val762Ala | Missense variant in the PARP1 catalytic domain that reduces enzymatic activit... | Longevity & Aging | Strong | |
| rs12913832 | HERC2 | Intronic enhancer variant controlling OCA2 expression and determining blue ve... | Skin & Eyes | Established | |
| rs1867277 | FOXE1 c.-283G>A | Functional 5' UTR variant in the FOXE1 thyroid transcription factor that incr... | Cancer Risk | Strong | |
| rs1229984 | ADH1B His48Arg | ADH1B variant encoding a ~100x faster alcohol dehydrogenase enzyme, causing r... | Mood & Behavior | Established | |
| rs2228000 | XPC Ala499Val | Missense variant in the DNA damage recognition gene XPC that moderately reduc... | Cancer Risk | Moderate | |
| rs2279744 | MDM2 SNP309 T>G | Regulatory variant in the MDM2 promoter that increases Sp1 transcription fact... | Cancer Risk | Strong | |
| rs4646903 | CYP1A1 *2A (MspI, T3801C) | Regulatory variant in the 3'-flanking region of CYP1A1 that increases gene in... | Dental & Oral Health | Moderate | |
| rs1238574 | SULT1E1 SULT1E1 intronic variant | Intronic variant in SULT1E1 (estrogen sulfotransferase) associated with alter... | Reproductive Hormones | Emerging | |
| rs2470890 | CYP1A2 Asn516= (exon 7) | Synonymous variant in CYP1A2 exon 7 in linkage disequilibrium with the *1F hi... | Cancer Risk | Strong | |
| rs4987188 | MSH2 Gly322Asp | Missense variant in the MSH2 lever domain (c.965G>A, p.Gly322Asp) that substi... | Gamete Quality & DNA Repair | Moderate | |
| rs13181 | ERCC2 Lys751Gln | Missense variant in the XPD helicase that reduces nucleotide excision repair ... | Longevity & Aging | Strong | |
| rs1537377 | CDKN2BAS CDKN2B-AS1 rs1537377 | Regulatory variant in the ANRIL long non-coding RNA at the 9p21.3 locus; the ... | Endometriosis & Uterine Health | Strong | |
| rs25487 | XRCC1 R399Q | Base excision repair scaffold protein that coordinates repair of oxidative DN... | Cancer Risk | Strong | |
| rs1369481 | NPAS2 | Intronic variant in the brain-specific circadian transcription factor NPAS2; ... | Hormones & Sleep | Emerging | |
| rs34612342 | MUTYH Y179C | Most common pathogenic MUTYH variant; biallelic carriers develop MUTYH-Associ... | Cancer Risk | Established | |
| rs1693482 | ADH1C Arg272Gln (ADH1C*1/*2) | ADH1C variant defining the fast (ADH1C*1, Arg272) vs slow (ADH1C*2, Gln272) a... | Mood & Behavior | Strong | |
| rs2230600 | PTPN13 I1522M | Missense variant in PTPN13 (FAP-1) converting Ile to Met at position 1522; th... | TNF, NF-kB & Inflammatory Cytokines | Moderate | |
| rs36053993 | MUTYH G396D | Second most common pathogenic MUTYH variant; biallelic carriers develop MUTYH... | Cancer Risk | Established | |
| rs1801516 | ATM D1853N | Missense variant in the ATM DNA-damage kinase associated with increased radia... | Longevity & Aging | Moderate | |
| rs6983267 | 8q24 | Intergenic enhancer variant near MYC oncogene — modestly increases colorectal... | Cancer Risk | Established | |
| rs28936701 | CYP1B1 R469W | Pathogenic CYP1B1 missense variant (Arg469Trp) that severely reduces enzyme a... | Vascular Inflammation & Remodeling | Established | |
| rs6162 | CYP17A1 His46= | Synonymous coding variant in CYP17A1 that tags a haplotype linked to altered ... | Reproductive Hormones | Moderate | |
| rs2075570 | MUC1 Near gene | MTX1 intronic variant at 1q22 tagging a gastric cancer susceptibility locus t... | IBD & Mucosal Immunity | Strong | |
| rs2228001 | XPC Lys939Gln | Missense variant in the DNA damage recognition gene XPC that reduces global-g... | Fitness & Body | Strong | |
| rs2854747 | IGFBP3 | Intronic variant in IGFBP3 — the gene encoding the main carrier protein for I... | Fat Storage & Energy | Moderate | |
| rs3820282 | WNT4 | Intronic variant in WNT4 on chromosome 1p36.12 that introduces a high-affinit... | Endometriosis & Uterine Health | Strong | |
| rs35947132 | PRF1 A91V | Common perforin variant that reduces cytolytic activity by ~50%, acting as a ... | Innate Immunity & Infection Defense | Strong | |
| rs3877899 | SELENOP Ala234Thr | Missense variant in selenoprotein P that alters selenium transport capacity; ... | Vitamins & Nutrient Absorption | Moderate | |
| rs2294008 | PSCA Near gene (promoter) | Regulatory variant in the PSCA 5′ UTR that recruits the repressor YY1 to the ... | IBD & Mucosal Immunity | Strong | |
| rs3748067 | IL17A | 3'UTR variant in IL-17A that alters post-transcriptional regulation via miRNA... | TNF, NF-kB & Inflammatory Cytokines | Moderate | |
| rs7167936 | CYP19A1 CYP19A1 intronic variant | Intronic variant near the CYP19A1 promoter region, falling within MIR4713HG b... | Reproductive Hormones | Emerging | |
| rs2295080 | MTOR | Promoter variant that reduces mTOR expression; the G allele lowers mTOR trans... | Longevity & Aging | Moderate | |
| rs1934953 | CYP2C8 | Intronic CYP2C8 variant linked to hypertension susceptibility, COPD risk, and... | Pharmacogenomics | Emerging | |
| rs2536 | MTOR | 3'UTR variant that alters miR-150 binding affinity; the C allele increases mi... | Longevity & Aging | Moderate | |
| rs4648127 | NFKB1 NFKB1 intronic variant | Rare protective intronic variant in the master immune transcription factor NF... | Innate Immunity & Infection Defense | Moderate | |
| rs72709458 | TERT | Intronic TERT variant that increases uterine fibroid (leiomyoma) risk | Endometriosis & Uterine Health | Strong | |
| rs2031920 | CYP2E1 *5B (RsaI) | Promoter variant increasing CYP2E1 inducibility, elevating oxidative stress f... | Pharmacogenomics | Moderate | |
| rs2736100 | TERT | Common intron 2 variant in the telomerase gene that influences telomere lengt... | Longevity & Aging | Strong | |
| rs2811712 | CDKN2BAS | Regulatory variant in the ANRIL long non-coding RNA at the 9p21.3 locus that ... | Longevity & Aging | Moderate | |
| rs9383935 | CCDC170 | 3' UTR variant in CCDC170 at the 6q25.1 estrogen-signaling locus; the T allel... | Endometriosis & Uterine Health | Moderate | |
| rs2740574 | CYP3A4 *1B -392A>G | Promoter variant affecting CYP3A4 expression, most common in African populations | Pharmacogenomics | Moderate | |
| rs4975605 | TERT | Intronic TERT variant influencing telomere maintenance, associated with testi... | Longevity & Aging | Moderate | |
| rs3776467 | MTRR | Intronic MTRR variant with sex-specific association with DNA methylation patt... | Methylation & Detox | Emerging | |
| rs564398 | CDKN2B-AS1 | Secondary T2D risk variant at the 9p21 CDKN2A/B locus within ANRIL (CDKN2B-AS... | Blood Sugar & Diabetes | Moderate | |
| rs7675998 | NAF1 | Regulatory variant near the NAF1 telomerase assembly gene associated with sho... | Longevity & Aging | Strong | |
| rs965513 | FOXE1 | Strongest GWAS thyroid locus — regulatory variant near FOXE1 affecting thyroi... | Hormones & Sleep | Strong | |
| rs9420907 | OBFC1 | Intronic variant in the CST complex component STN1/OBFC1 that influences telo... | Longevity & Aging | Strong | |
| rs828903 | MTHFD2 | Intronic variant in the mitochondrial folate enzyme MTHFD2, influencing one-c... | Methylation & Detox | Moderate | |
| rs8192780 | CYP2E1 | Downstream regulatory variant near CYP2E1 associated with nasopharyngeal carc... | Pharmacogenomics | Emerging |