Tag

Cancer Risk

96 genetic variants with this tag.

RSID	Gene	Description	Category
rs1001179	CAT -262C>T	Catalase promoter variant affecting hydrogen peroxide clearance and antioxida...	Methylation & Detox	Cancer Risk	Strong
rs1042602	TYR S192Y	Common tyrosinase variant affecting melanin production, skin pigmentation, ta...	Skin & Eyes	Cancer Risk	Strong
rs11571833	BRCA2 K3326X	Moderate-penetrance stop-gain variant truncating the last 93 amino acids of B...	Cancer Risk	Cancer Risk	Strong
rs1041981	LTA Thr26Asn (TNFB*2)	Missense variant in lymphotoxin-alpha, a TNF superfamily cytokine essential f...	Innate Immunity & Infection Defense	Cancer Risk	Moderate
rs1042522	TP53 Pro72Arg	p53 codon 72 polymorphism producing two functionally distinct proteins — Arg7...	Longevity & Aging	Cancer Risk	Strong
rs16941	BRCA1 E1038G	Common missense variant in BRCA1 with debated association to modest breast ca...	Cancer Risk	Cancer Risk	Moderate
rs10380	MTRR His595Tyr	Missense variant in methionine synthase reductase that impairs B12 reactivati...	Methylation & Detox	Cancer Risk	Moderate
rs10505806	MGST1	Intergenic variant near MGST1 that modifies whether aspirin/NSAIDs reduce col...	Vascular Inflammation & Remodeling	Cancer Risk	Moderate
rs10773771	PIWIL1 PIWIL1 3'UTR C>T	A 3' UTR variant in PIWIL1 that alters miRNA binding to the transcript and mo...	Fertility & Ovarian Function	Cancer Risk	Emerging
rs17879961	CHEK2 I157T	Missense variant in the CHEK2 FHA domain that impairs phosphoprotein binding ...	Cancer Risk	Cancer Risk	Strong
rs10766383	NUCB2	Intronic NUCB2 variant associated with type 2 diabetes risk in females and or...	Hormones & Sleep	Cancer Risk	Moderate
rs1143627	IL1B -31T>C	Promoter variant that elevates IL-1β transcription, increasing risk of H. pyl...	TNF, NF-kB & Inflammatory Cytokines	Cancer Risk	Strong
rs12203592	IRF4 T allele	Regulatory variant in IRF4 enhancer affecting melanocyte pigmentation, sun se...	Skin & Eyes	Cancer Risk	Strong
rs1799782	XRCC1 R194W	Missense variant in the linker region of XRCC1 that disrupts interaction with...	Cancer Risk	Cancer Risk	Strong
rs10848087	PIWIL1 PIWIL1 G>A (c.1128G>A)	Synonymous variant in PIWIL1 associated with increased epithelial ovarian can...	Fertility & Ovarian Function	Cancer Risk	Emerging
rs10936599	TERC Near gene (3q26.2)	Near-TERC regulatory variant where the minor T allele associates with shorter...	Longevity & Aging	Cancer Risk	Established
rs1143634	IL1B +3954C>T	Synonymous exon 5 variant in IL-1β that increases IL-1β protein secretion des...	TNF, NF-kB & Inflammatory Cytokines	Cancer Risk	Strong
rs12350739	BNC2 Regulatory variant	Intergenic enhancer variant controlling BNC2 expression in melanocytes; deter...	Skin & Eyes	Cancer Risk	Strong
rs1799793	ERCC2 D312N	Missense variant in the XPD helicase that reduces nucleotide excision repair ...	Cancer Risk	Cancer Risk	Strong
rs12913832	HERC2	Intronic enhancer variant controlling OCA2 expression and determining blue ve...	Skin & Eyes	Cancer Risk	Established
rs1799950	BRCA1 Q356R	Common missense variant near the BRCA1 RING finger domain; associated with mo...	Cancer Risk	Cancer Risk	Moderate
rs1799977	MLH1 Ile219Val	Missense variant in the MLH1 ATPase domain (c.655A>G, p.Ile219Val) that subst...	Gamete Quality & DNA Repair	Cancer Risk	Moderate
rs1136410	PARP1 Val762Ala	Missense variant in the PARP1 catalytic domain that reduces enzymatic activit...	Longevity & Aging	Cancer Risk	Strong
rs1229984	ADH1B His48Arg	ADH1B variant encoding a ~100x faster alcohol dehydrogenase enzyme, causing r...	Mood & Behavior	Cancer Risk	Established
rs1800734	MLH1 -93G>A	Promoter variant in the MLH1 DNA mismatch repair gene that reduces transcript...	Cancer Risk	Cancer Risk	Strong
rs1805362	MRE11	Missense variant in MRE11 (p.Met698Val, T>C on plus strand) at a poorly conse...	Gamete Quality & DNA Repair	Cancer Risk	Moderate
rs1800975	XPA A23G	5' UTR variant in the XPA DNA damage recognition gene that modulates nucleoti...	Cancer Risk	Cancer Risk	Strong
rs1801155	APC I1307K	Missense variant in the APC tumor suppressor that creates a hypermutable poly...	Cancer Risk	Cancer Risk	Strong
rs1805794	NBN E185Q	Component of the MRN complex essential for DNA double-strand break repair, te...	Cancer Risk	Cancer Risk	Strong
rs2294918	PNPLA3 PNPLA3 K434E (E434K)	Second PNPLA3 missense variant that reduces hepatic PNPLA3 mRNA and protein e...	Liver Fat	Cancer Risk	Moderate
rs1238574	SULT1E1 SULT1E1 intronic variant	Intronic variant in SULT1E1 (estrogen sulfotransferase) associated with alter...	Reproductive Hormones	Cancer Risk	Emerging
rs1867277	FOXE1 c.-283G>A	Functional 5' UTR variant in the FOXE1 thyroid transcription factor that incr...	Cancer Risk	Cancer Risk	Strong
rs2303428	MSH2	Splice-region variant in MSH2 (c.2006-6T>C) located 6 bases upstream of exon ...	Gamete Quality & DNA Repair	Cancer Risk	Moderate
rs4646903	CYP1A1 *2A (MspI, T3801C)	Regulatory variant in the 3'-flanking region of CYP1A1 that increases gene in...	Dental & Oral Health	Cancer Risk	Moderate
rs2228000	XPC Ala499Val	Missense variant in the DNA damage recognition gene XPC that moderately reduc...	Cancer Risk	Cancer Risk	Moderate
rs2296241	CYP24A1	Synonymous coding variant in CYP24A1 (vitamin D 24-hydroxylase) that tags fun...	Vitamin D Metabolism	Cancer Risk	Moderate
rs1056836	CYP1B1 Leu432Val	Phase I detoxification enzyme that hydroxylates estradiol to potentially geno...	Methylation & Detox	Cancer Risk	Moderate
rs13181	ERCC2 Lys751Gln	Missense variant in the XPD helicase that reduces nucleotide excision repair ...	Longevity & Aging	Cancer Risk	Strong
rs2279744	MDM2 SNP309 T>G	Regulatory variant in the MDM2 promoter that increases Sp1 transcription fact...	Cancer Risk	Cancer Risk	Strong
rs1693482	ADH1C Arg272Gln (ADH1C1/2)	ADH1C variant defining the fast (ADH1C1, Arg272) vs slow (ADH1C2, Gln272) a...	Mood & Behavior	Cancer Risk	Strong
rs2470890	CYP1A2 Asn516= (exon 7)	Synonymous variant in CYP1A2 exon 7 in linkage disequilibrium with the *1F hi...	Cancer Risk	Cancer Risk	Strong
rs1330	NUCB2	Intronic NUCB2 variant associated with obesity risk in males, type 2 diabetes...	Hormones & Sleep	Cancer Risk	Moderate
rs1537377	CDKN2BAS CDKN2B-AS1 rs1537377	Regulatory variant in the ANRIL long non-coding RNA at the 9p21.3 locus; the ...	Endometriosis & Uterine Health	Cancer Risk	Strong
rs2230600	PTPN13 I1522M	Missense variant in PTPN13 (FAP-1) converting Ile to Met at position 1522; th...	TNF, NF-kB & Inflammatory Cytokines	Cancer Risk	Moderate
rs25487	XRCC1 R399Q	Base excision repair scaffold protein that coordinates repair of oxidative DN...	Cancer Risk	Cancer Risk	Strong
rs1369481	NPAS2	Intronic variant in the brain-specific circadian transcription factor NPAS2; ...	Hormones & Sleep	Cancer Risk	Emerging
rs34612342	MUTYH Y179C	Most common pathogenic MUTYH variant; biallelic carriers develop MUTYH-Associ...	Cancer Risk	Cancer Risk	Established
rs36053993	MUTYH G396D	Second most common pathogenic MUTYH variant; biallelic carriers develop MUTYH...	Cancer Risk	Cancer Risk	Established
rs17147230	IL6	Near-gene upstream variant in IL6 associated with hepatocellular carcinoma ri...	Longevity & Aging	Cancer Risk	Moderate
rs555607708	CHEK2 1100delC	Frameshift deletion in the CHEK2 checkpoint kinase that abolishes kinase acti...	Cancer Risk	Cancer Risk	Established
rs1801516	ATM D1853N	Missense variant in the ATM DNA-damage kinase associated with increased radia...	Longevity & Aging	Cancer Risk	Moderate
rs4987188	MSH2 Gly322Asp	Missense variant in the MSH2 connector domain (c.965G>A, p.Gly322Asp) that su...	Gamete Quality & DNA Repair	Cancer Risk	Moderate
rs6983267	8q24	Intergenic enhancer variant near MYC oncogene — modestly increases colorectal...	Cancer Risk	Cancer Risk	Established
rs2297440	RTEL1 RTEL1 telomere maintenance variant	Intronic variant in RTEL1 (Regulator of Telomere Elongation Helicase 1) on ch...	TNF, NF-kB & Inflammatory Cytokines	Cancer Risk	Moderate
rs944289	FOXE1	Regulatory variant near FOXE1 at 14q13.3 that reduces PTCSC3 tumor suppressor...	Cancer Risk	Cancer Risk	Strong
rs2070803	MUC1	Near-gene regulatory variant that reduces MUC1 mucin expression on the gastri...	IBD & Mucosal Immunity	Cancer Risk	Strong
rs2075570	MUC1 Near gene	MTX1 intronic variant at 1q22 tagging a gastric cancer susceptibility locus t...	IBD & Mucosal Immunity	Cancer Risk	Strong
rs1800947	CRP +1059G>C	Synonymous exon 2 variant that influences baseline C-reactive protein express...	Vascular Inflammation & Remodeling	Cancer Risk	Strong
rs35947132	PRF1 A91V	Common perforin variant that reduces cytolytic activity by ~50%, acting as a ...	Innate Immunity & Infection Defense	Cancer Risk	Strong
rs738409	PNPLA3 I148M	Strongest genetic risk factor for non-alcoholic fatty liver disease, progress...	Liver Fat	Cancer Risk	Established
rs12659	SLC19A1	Synonymous variant in the folate transporter SLC19A1 — a haplotype tag linked...	Methylation & Detox	Cancer Risk	Emerging
rs3820282	WNT4	Intronic variant in WNT4 on chromosome 1p36.12 that introduces a high-affinit...	Endometriosis & Uterine Health	Cancer Risk	Strong
rs13420827	DNMT3A	3' UTR variant in the de novo DNA methyltransferase DNMT3A, associated with a...	Methylation & Detox	Cancer Risk	Emerging
rs2294008	PSCA Near gene (promoter)	Regulatory variant in the PSCA 5′ UTR that recruits the repressor YY1 to the ...	IBD & Mucosal Immunity	Cancer Risk	Strong
rs6162	CYP17A1 His46=	Synonymous coding variant in CYP17A1 that tags a haplotype linked to altered ...	Reproductive Hormones	Cancer Risk	Moderate
rs3748067	IL17A	3'UTR variant in IL-17A that alters post-transcriptional regulation via miRNA...	TNF, NF-kB & Inflammatory Cytokines	Cancer Risk	Moderate
rs1801272	CYP2A6 *2 (L160H)	Loss-of-function CYP2A6 variant that abolishes nicotine metabolism, slowing c...	Pharmacogenomics	Cancer Risk	Established
rs3877899	SELENOP Ala234Thr	Missense variant in selenoprotein P that alters selenium transport capacity; ...	Vitamins & Nutrient Absorption	Cancer Risk	Moderate
rs7167936	CYP19A1 CYP19A1 intronic variant	Intronic variant near the CYP19A1 promoter region, falling within MIR4713HG b...	Reproductive Hormones	Cancer Risk	Emerging
rs1537373	CDKN2B-AS1 ANRIL T2D/Cardiovascular Variant	Regulatory intronic variant within ANRIL (CDKN2B-AS1) at the 9p21.3 locus; th...	Blood Sugar & Diabetes	Cancer Risk	Strong
rs2295080	MTOR	Promoter variant that reduces mTOR expression; the G allele lowers mTOR trans...	Longevity & Aging	Cancer Risk	Moderate
rs1934953	CYP2C8	Intronic CYP2C8 variant linked to epoxygenase pathway activity, hypertension ...	Pharmacogenomics	Cancer Risk	Emerging
rs2536	MTOR	3'UTR variant that alters miR-150 binding affinity; the C allele increases mi...	Longevity & Aging	Cancer Risk	Moderate
rs17309872	GSS	Downstream regulatory variant of glutathione synthetase (GSS) associated with...	Methylation & Detox	Cancer Risk	Moderate
rs2228001	XPC Lys939Gln	Missense variant in the DNA damage recognition gene XPC that reduces global-g...	Fitness & Body	Cancer Risk	Strong
rs28936701	CYP1B1 R469W	Pathogenic CYP1B1 missense variant (Arg469Trp) that severely reduces enzyme a...	Vascular Inflammation & Remodeling	Cancer Risk	Established
rs2031920	CYP2E1 *5B (RsaI)	Promoter variant increasing CYP2E1 inducibility, elevating oxidative stress f...	Pharmacogenomics	Cancer Risk	Moderate
rs2736100	TERT	Common intron 2 variant in the telomerase gene that influences telomere lengt...	Longevity & Aging	Cancer Risk	Strong
rs4648127	NFKB1 NFKB1 intronic variant	Rare protective intronic variant in the master immune transcription factor NF...	Innate Immunity & Infection Defense	Cancer Risk	Moderate
rs72709458	TERT	Intronic TERT variant that increases uterine fibroid (leiomyoma) risk through...	Endometriosis & Uterine Health	Cancer Risk	Strong
rs505922	ABO ABO blood group tag SNP	Tag SNP for the ABO blood group locus; T allele marks blood type O (lower clo...	Coronary Artery Disease & Atherosclerosis	Cancer Risk	Established
rs2811712	CDKN2BAS	Regulatory variant in the ANRIL long non-coding RNA at the 9p21.3 locus that ...	Longevity & Aging	Cancer Risk	Moderate
rs2854747	IGFBP3	Intronic variant in IGFBP3 — the gene encoding the main carrier protein for I...	Fat Storage & Energy	Cancer Risk	Moderate
rs9383935	CCDC170	3' UTR variant in CCDC170 at the 6q25.1 estrogen-signaling locus; the T allel...	Endometriosis & Uterine Health	Cancer Risk	Moderate
rs3803304	AKT1	Intronic AKT1 variant near a conserved exon-intron boundary; the G allele is ...	Longevity & Aging	Cancer Risk	Moderate
rs2740574	CYP3A4 *1B -392A>G	Promoter variant affecting CYP3A4 expression, most common in African populations	Pharmacogenomics	Cancer Risk	Moderate
rs4975605	TERT	Intronic TERT variant influencing telomere maintenance, associated with testi...	Longevity & Aging	Cancer Risk	Moderate
rs7675998	NAF1	Regulatory variant near the NAF1 telomerase assembly gene associated with sho...	Longevity & Aging	Cancer Risk	Strong
rs9420907	OBFC1	Intronic variant in the CST complex component STN1/OBFC1 that influences telo...	Longevity & Aging	Cancer Risk	Strong
rs3776467	MTRR	Intronic MTRR variant with sex-specific association with DNA methylation patt...	Methylation & Detox	Cancer Risk	Emerging
rs564398	CDKN2B-AS1	Secondary T2D risk variant at the 9p21 CDKN2A/B locus within ANRIL (CDKN2B-AS...	Blood Sugar & Diabetes	Cancer Risk	Moderate
rs4997557	CYP2A6	Rare CYP2A6 missense variant (p.Thr294Ile) that likely reduces nicotine-metab...	Pharmacogenomics	Cancer Risk	Emerging
rs71748309	GSTT1 Null (Gene Deletion)	Complete deletion of the GSTT1 gene eliminating glutathione conjugation capac...	Methylation & Detox	Cancer Risk	Strong
rs828903	MTHFD2	Intronic variant in the mitochondrial folate enzyme MTHFD2, influencing one-c...	Methylation & Detox	Cancer Risk	Moderate
rs965513	FOXE1	Strongest GWAS thyroid locus — regulatory variant near FOXE1 affecting thyroi...	Hormones & Sleep	Cancer Risk	Strong
rs8192780	CYP2E1	Downstream regulatory variant near CYP2E1 associated with nasopharyngeal carc...	Pharmacogenomics	Cancer Risk	Emerging