Tag

Cancer Risk

46 genetic variants with this tag.

RSID	Gene	Description	Category
rs555607708	CHEK2 1100delC	Frameshift deletion in the CHEK2 checkpoint kinase that abolishes kinase acti...	Cancer Risk	Cancer Risk DNA Repair Double-Strand Break Repair	Established
rs12913832	HERC2	Intronic enhancer variant controlling OCA2 expression and determining blue ve...	Skin & Eyes	Skin, Hair & Pigmentation Eye Color Melanoma	Established
rs36053993	MUTYH G396D	Second most common pathogenic MUTYH variant; biallelic carriers develop MUTYH...	Cancer Risk	Cancer Risk DNA Repair Base Excision Repair	Established
rs12203592	IRF4 T allele	Regulatory variant in IRF4 enhancer affecting melanocyte pigmentation, sun se...	Skin & Eyes	Skin, Hair & Pigmentation Sun Sensitivity Melanoma	Strong
rs2736100	TERT	Common intron 2 variant in the telomerase gene that influences telomere lengt...	Longevity & Aging	Mental Health Telomere Biology Aging	Strong
rs34612342	MUTYH Y179C	Most common pathogenic MUTYH variant; biallelic carriers develop MUTYH-Associ...	Cancer Risk	Cancer Risk DNA Repair Base Excision Repair	Established
rs1042602	TYR S192Y	Common tyrosinase variant affecting melanin production, skin pigmentation, ta...	Skin & Eyes	Skin Pigmentation Melanoma Sun Sensitivity	Strong
rs6983267	8q24	Intergenic enhancer variant near MYC oncogene — modestly increases colorectal...	Cancer Risk	Cancer Risk Cancer Screening Prostate	Established
rs1801155	APC I1307K	Missense variant in the APC tumor suppressor that creates a hypermutable poly...	Cancer Risk	Cancer Risk Tumor Suppressor Colorectal Cancer	Strong
rs4646903	CYP1A1 *2A (MspI, T3801C)	Regulatory variant in the 3'-flanking region of CYP1A1 that increases gene in...	Dental & Oral Health	Detoxification Phase I Xenobiotics	Moderate
rs1799793	ERCC2 D312N	Missense variant in the XPD helicase that reduces nucleotide excision repair ...	Cancer Risk	Cancer Risk DNA Repair Cancer Screening	Strong
rs2295080	MTOR	Promoter variant that reduces mTOR expression; the G allele lowers mTOR trans...	Longevity & Aging	Longevity Aging Autophagy	Moderate
rs25487	XRCC1 R399Q	Base excision repair scaffold protein that coordinates repair of oxidative DN...	Cancer Risk	Cancer Risk DNA Repair Base Excision Repair	Strong
rs1042522	TP53 Pro72Arg	p53 codon 72 polymorphism producing two functionally distinct proteins — Arg7...	Longevity & Aging	Longevity Aging Cancer Risk	Strong
rs1799782	XRCC1 R194W	Missense variant in the linker region of XRCC1 that disrupts interaction with...	Cancer Risk	Cancer Risk DNA Repair Base Excision Repair	Strong
rs11571833	BRCA2 K3326X	Moderate-penetrance stop-gain variant truncating the last 93 amino acids of B...	Cancer Risk	Cancer Risk BRCA DNA Repair	Strong
rs1805794	NBN E185Q	Component of the MRN complex essential for DNA double-strand break repair, te...	Cancer Risk	Cancer Risk DNA Repair Double-Strand Break Repair	Strong
rs2279744	MDM2 SNP309 T>G	Regulatory variant in the MDM2 promoter that increases Sp1 transcription fact...	Cancer Risk	Cancer Risk p53 Pathway Tumor Suppressor	Strong
rs1800734	MLH1 -93G>A	Promoter variant in the MLH1 DNA mismatch repair gene that reduces transcript...	Cancer Risk	Cancer Risk Mismatch Repair Colorectal Cancer	Strong
rs16941	BRCA1 E1038G	Common missense variant in BRCA1 with debated association to modest breast ca...	Cancer Risk	Cancer Risk BRCA DNA Repair	Moderate
rs1800947	CRP +1059G>C	Synonymous exon 2 variant that influences baseline C-reactive protein express...	Heart & Inflammation	Inflammation Cardiovascular Cancer Risk	Strong
rs1799950	BRCA1 Q356R	Common missense variant near the BRCA1 RING finger domain; associated with mo...	Cancer Risk	Cancer Risk BRCA DNA Repair	Moderate
rs2470890	CYP1A2 Asn516= (exon 7)	Synonymous variant in CYP1A2 exon 7 in linkage disequilibrium with the *1F hi...	Cancer Risk	Cancer Risk Carcinogen Metabolism Detoxification	Strong
rs1801516	ATM D1853N	Missense variant in the ATM DNA-damage kinase associated with increased radia...	Longevity & Aging	DNA Repair Radiation Sensitivity Genomic Stability	Moderate
rs944289	FOXE1	Regulatory variant near FOXE1 at 14q13.3 that reduces PTCSC3 tumor suppressor...	Cancer Risk	Thyroid Cancer Risk Hormones & Thyroid	Strong
rs1136410	PARP1 Val762Ala	Missense variant in the PARP1 catalytic domain that reduces enzymatic activit...	Longevity & Aging	DNA Repair NAD+ Metabolism Longevity	Strong
rs1867277	FOXE1 c.-283G>A	Functional 5' UTR variant in the FOXE1 thyroid transcription factor that incr...	Cancer Risk	Thyroid Cancer Risk Hormones & Thyroid	Strong
rs12350739	BNC2 Regulatory variant	Intergenic enhancer variant controlling BNC2 expression in melanocytes; deter...	Skin & Eyes	Skin Pigmentation Freckling UV Sensitivity	Strong
rs13181	ERCC2 Lys751Gln	Missense variant in the XPD helicase that reduces nucleotide excision repair ...	Longevity & Aging	DNA Repair Longevity Aging	Strong
rs1800975	XPA A23G	5' UTR variant in the XPA DNA damage recognition gene that modulates nucleoti...	Cancer Risk	Cancer Risk DNA Repair Pharmacogenomics	Strong
rs505922	ABO ABO blood group tag SNP	Tag SNP for the ABO blood group locus; T allele marks blood type O (lower clo...	Heart & Inflammation	Cardiovascular Thrombosis Blood Thinners	Established
rs965513	FOXE1	Strongest GWAS thyroid locus — regulatory variant near FOXE1 affecting thyroi...	Hormones & Sleep	Thyroid Hormones & Thyroid Cancer Risk	Strong
rs3803304	AKT1	Intronic AKT1 variant near a conserved exon-intron boundary; the G allele is ...	Longevity & Aging	Longevity Aging Insulin	Moderate
rs2740574	CYP3A4 *1B -392A>G	Promoter variant affecting CYP3A4 expression, most common in African populations	Pharmacogenomics	Drug Metabolism Pharmacogenomics Cancer Risk	Moderate
rs738409	PNPLA3 I148M	Strongest genetic risk factor for non-alcoholic fatty liver disease, progress...	Nutrition & Metabolism	Fat Metabolism Triglycerides Diet	Established
rs2228001	XPC Lys939Gln	Missense variant in the DNA damage recognition gene XPC that reduces global-g...	Fitness & Body	DNA Repair Fitness Recovery	Strong
rs1056836	CYP1B1 Leu432Val	Phase I detoxification enzyme that hydroxylates estradiol to potentially geno...	Methylation & Detox	Detoxification Phase I Estrogen Metabolism	Moderate
rs1001179	CAT -262C>T	Catalase promoter variant affecting hydrogen peroxide clearance and antioxida...	Methylation & Detox	Detoxification Antioxidants Oxidative Stress	Strong
rs1229984	ADH1B His48Arg	ADH1B variant encoding a ~100x faster alcohol dehydrogenase enzyme, causing r...	Brain & Mental Health	Addiction Alcohol Cancer Risk	Established
rs71748309	GSTT1 Null (Gene Deletion)	Complete deletion of the GSTT1 gene eliminating glutathione conjugation capac...	Methylation & Detox	Detoxification Glutathione Phase II	Strong
rs10936599	TERC Near gene (3q26.2)	Near-TERC regulatory variant where the minor T allele associates with shorter...	Longevity & Aging	Telomere Biology Aging Longevity	Established
rs9420907	OBFC1	Intronic variant in the CST complex component STN1/OBFC1 that influences telo...	Longevity & Aging	Telomere Biology Aging Longevity	Strong
rs7675998	NAF1	Regulatory variant near the NAF1 telomerase assembly gene associated with sho...	Longevity & Aging	Telomere Biology Longevity Cardiovascular	Strong
rs17147230	IL6	Near-gene upstream variant in IL6 associated with hepatocellular carcinoma ri...	Longevity & Aging	Inflammation Longevity Liver Health	Moderate
rs2536	MTOR	3'UTR variant that alters miR-150 binding affinity; the C allele increases mi...	Longevity & Aging	Longevity Aging Autophagy	Moderate
rs1693482	ADH1C Arg272Gln (ADH1C1/2)	ADH1C variant defining the fast (ADH1C1, Arg272) vs slow (ADH1C2, Gln272) a...	Brain & Mental Health	Addiction Alcohol Cancer Risk	Strong