Trait
SNPs associated with Breast cancer
90 genetic variants across 43 genes have been associated with Breast cancer in published research. Key genes include ADH1C, ANKLE1, APC.
Associated variants90 total
| rsid | Gene | Effect | Evidence |
|---|---|---|---|
| rs2981582 | FGFR2 | Each A allele increases breast cancer risk by ~26% | Meta-analysis |
| rs1799950 | BRCA1 | Modestly higher breast cancer risk | Meta-analysis |
| rs3749474 | CLOCK | Reduced breast cancer risk for T allele carriers | Meta-analysis |
| rs1695 | GSTP1 | Increased breast cancer risk in Asian women | Meta-analysis |
| rs1801133 | MTHFR | Increased breast cancer risk | Meta-analysis |
| rs17879961 | CHEK2 | Increased breast cancer risk | Meta-analysis |
| rs4680 | COMT | Increased breast cancer risk in East Asian women | Meta-analysis |
| rs1805087 | MTR | Increased breast cancer risk in specific ancestries | Meta-analysis |
| rs4986938 | ESR2 | Reduced breast cancer risk | Meta-analysis |
| rs12255372 | TCF7L2 | Higher breast cancer risk | Meta-analysis |
| rs698 | ADH1C | Altered breast cancer risk in drinkers | Meta-analysis |
| rs1801282 | PPARG | Increased breast cancer risk | Meta-analysis |
| rs4244285 | CYP2C19 | Altered breast cancer susceptibility | Meta-analysis |
| rs1219651 | FGFR2 | GWAS association (p=9.0e-17) | Major Consortium Study |
| rs2912780 | — | GWAS association (p=6.0e-14) | Major Consortium Study |
| rs80357906 | BRCA1 | Higher breast cancer risk | Large GWAS |
| rs3125719 | MTUS2 | GWAS association (p=4.0e-80) | Large GWAS |
| rs2936870 | FGFR2 | GWAS association (p=5.0e-60) | Large GWAS |
| rs4784227 | CASC16 | GWAS association (p=5.0e-50) | Large GWAS |
| rs2981575 | FGFR2 | GWAS association (p=8.0e-50) | Large GWAS |
| rs12922061 | CASC16 | GWAS association (p=2.0e-33) | Large GWAS |
| rs9613774 | — | GWAS association (p=8.0e-28) | Large GWAS |
| rs7709971 | — | GWAS association (p=1.0e-25) | Large GWAS |
| rs554219 | — | GWAS association (p=3.0e-25) | Large GWAS |
| rs78540526 | — | GWAS association (p=5.0e-25) | Large GWAS |
| rs62237617 | TTC28 | GWAS association (p=2.0e-20) | Large GWAS |
| rs72927565 | — | GWAS association (p=6.0e-19) | Large GWAS |
| rs4442975 | IGFBP-AS1 | GWAS association (p=5.0e-18) | Large GWAS |
| rs13412666 | — | GWAS association (p=2.0e-17) | Large GWAS |
| rs12465506 | — | GWAS association (p=1.0e-16) | Large GWAS |
| rs10069690 | TERT | GWAS association (p=2.0e-16) | Large GWAS |
| rs12173562 | — | GWAS association (p=6.0e-15) | Large GWAS |
| rs12653202 | — | GWAS association (p=8.0e-15) | Large GWAS |
| rs63334461 | — | GWAS association (p=5.0e-14) | Large GWAS |
| rs10941679 | — | GWAS association (p=7.0e-14) | Large GWAS |
| rs2026659 | CCDC171 | GWAS association (p=7.0e-14) | Large GWAS |
| rs11715126 | NEK10 | GWAS association (p=1.0e-13) | Large GWAS |
| rs13281615 | CASC8 | GWAS association (p=2.0e-13) | Large GWAS |
| rs6913578 | — | GWAS association (p=5.0e-13) | Large GWAS |
| rs35668161 | TOX3 | GWAS association (p=5.0e-13) | Large GWAS |
| rs2634458 | PSD3 | GWAS association (p=9.0e-13) | Large GWAS |
| rs61938093 | — | GWAS association (p=2.0e-12) | Large GWAS |
| rs2837148 | IGSF5 | GWAS association (p=6.0e-12) | Large GWAS |
| rs147358466 | DLGAP2 | GWAS association (p=6.0e-12) | Large GWAS |
| rs56069439 | ANKLE1 | GWAS association (p=1.0e-11) | Large GWAS |
| rs16963205 | — | GWAS association (p=2.0e-11) | Large GWAS |
| rs73169072 | MRTFA | GWAS association (p=3.0e-11) | Large GWAS |
| rs6451770 | — | GWAS association (p=4.0e-11) | Large GWAS |
| rs57693796 | — | GWAS association (p=4.0e-11) | Large GWAS |
| rs4752575 | — | GWAS association (p=9.0e-11) | Large GWAS |
| rs7716600 | — | GWAS association (p=2.0e-10) | Large GWAS |
| rs201885052 | — | GWAS association (p=3.0e-10) | Large GWAS |
| rs6929137 | CCDC170 | GWAS association (p=3.0e-10) | Large GWAS |
| rs1851366 | NEK10 | GWAS association (p=8.0e-10) | Large GWAS |
| rs6001932 | — | GWAS association (p=2.0e-09) | Large GWAS |
| rs1121980 | FTO | GWAS association (p=2.0e-09) | Large GWAS |
| rs4947492 | EGFR | GWAS association (p=2.0e-09) | Large GWAS |
| rs114003206 | CD9 | GWAS association (p=2.0e-09) | Large GWAS |
| rs10043344 | — | GWAS association (p=3.0e-09) | Large GWAS |
| rs777570833 | — | GWAS association (p=3.0e-09) | Large GWAS |
| rs4391763 | — | GWAS association (p=5.0e-09) | Large GWAS |
| rs62394365 | — | GWAS association (p=5.0e-09) | Large GWAS |
| rs6750813 | — | GWAS association (p=7.0e-09) | Large GWAS |
| rs73920866 | LOC105372249 | GWAS association (p=8.0e-09) | Large GWAS |
| rs11571833 | BRCA2 | Modestly higher breast cancer risk | Large GWAS |
| rs144423980 | CDH8 | GWAS association (p=1.0e-08) | Large GWAS |
| rs62235681 | — | GWAS association (p=1.0e-08) | Large GWAS |
| rs62235635 | PITPNB | GWAS association (p=1.0e-08) | Large GWAS |
| rs548980 | — | GWAS association (p=1.0e-08) | Large GWAS |
| rs873994 | — | GWAS association (p=1.0e-08) | Large GWAS |
| rs78374001 | — | GWAS association (p=1.0e-08) | Large GWAS |
| rs61751053 | ARHGEF38 | GWAS association (p=1.0e-08) | Large GWAS |
| rs1048433 | BBS7 | GWAS association (p=1.0e-08) | Large GWAS |
| rs6424087 | — | GWAS association (p=1.0e-08) | Large GWAS |
| rs1292011 | LOC105370003 | GWAS association (p=2.0e-08) | Large GWAS |
| rs12332693 | — | GWAS association (p=2.0e-08) | Large GWAS |
| rs776309300 | — | GWAS association (p=2.0e-08) | Large GWAS |
| rs11249433 | EMBP1 | GWAS association (p=2.0e-08) | Large GWAS |
| rs35240111 | ESR1 | GWAS association (p=2.0e-08) | Large GWAS |
| rs17542768 | FGFR2 | GWAS association (p=2.0e-08) | Large GWAS |
| rs145543257 | — | GWAS association (p=4.0e-08) | Large GWAS |
| rs142410477 | — | GWAS association (p=4.0e-08) | Large GWAS |
| rs1427933 | — | GWAS association (p=4.0e-08) | Large GWAS |
| rs10816634 | LOC105376214 | GWAS association (p=4.0e-08) | Large GWAS |
| rs1445998 | — | GWAS association (p=4.0e-08) | Large GWAS |
| rs2057968 | — | GWAS association (p=4.0e-08) | Large GWAS |
| rs16942 | BRCA1 | Slightly higher breast cancer risk | Candidate gene study |
| rs7726159 | TERT | Increased breast cancer risk in BRCA1 carriers | Preliminary work |
| rs1800057 | ATM | Increased breast cancer risk | Preliminary work |
| rs1801155 | APC | Increased breast cancer risk | Preliminary work |
Associations aggregated from the GWAS Catalog and curated literature. Informational only — not medical advice.