rsid large_stringlengths 5 12 ⌀ | variant_key large_stringlengths 5 111 ⌀ | conclusion large_stringlengths 10 1.08k ⌀ | negatives large_stringclasses 0
values | module large_stringclasses 10
values | gene large_stringlengths 0 12 ⌀ | phenotype large_stringlengths 0 1.02k ⌀ | category large_stringclasses 13
values |
|---|---|---|---|---|---|---|---|
rs730881302 | rs730881302 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs730881302 | rs730881302 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2546871085 | rs2546871085 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2546871085 | rs2546871085 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2135669236 | rs2135669236 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome | |
rs2135669236 | rs2135669236 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome | |
rs1555091359 | rs1555091359 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1555091359 | rs1555091359 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1555091367 | rs1555091367 | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Malignant tumor of breast | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Malignant tumor of breast | |
rs1555091367 | rs1555091367 | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Malignant tumor of breast | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Malignant tumor of breast | |
rs1555091370 | rs1555091370 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1555091370 | rs1555091370 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs746598992 | rs746598992 | ClinVar: likely_pathogenic (1★) — Malignant tumor of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Malignant tumor of breast | |
rs746598992 | rs746598992 | ClinVar: likely_pathogenic (1★) — Malignant tumor of breast | genotype: homozygous (two copies) | null | cancer | ATM | Malignant tumor of breast | |
rs1057516981 | rs1057516981 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1057516981 | rs1057516981 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs768356403 | rs768356403 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs768356403 | rs768356403 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2546871344 | rs2546871344 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2546871344 | rs2546871344 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2546871389 | rs2546871389 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2546871389 | rs2546871389 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs1555091402 | rs1555091402 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1555091402 | rs1555091402 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108281146:TAGAA:T | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108281146:TAGAA:T | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2546871489 | rs2546871489 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2546871489 | rs2546871489 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2546871582 | rs2546871582 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2546871582 | rs2546871582 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2546871640 | rs2546871640 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast | |
rs2546871640 | rs2546871640 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast | |
rs2135670424 | rs2135670424 | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135670424 | rs2135670424 | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108281163:AAAAAGGTATATATGG:A | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108281163:AAAAAGGTATATATGG:A | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2546871694 | rs2546871694 | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast | |
rs2546871694 | rs2546871694 | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast | |
rs587776551 | ga4gh:VA.PfvuQm1GzoHeLXSBdviEfdU6wrGgyQ1f | ClinVar: pathogenic (3★) — ATM-related cancer predisposition|Malignant tumor of pancreas|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ATM | ATM-related cancer predisposition|Malignant tumor of pancreas|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided | |
rs587776551 | ga4gh:VA.PfvuQm1GzoHeLXSBdviEfdU6wrGgyQ1f | ClinVar: pathogenic (3★) — ATM-related cancer predisposition|Malignant tumor of pancreas|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ATM | ATM-related cancer predisposition|Malignant tumor of pancreas|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Familial cancer of breast|Ataxia-telangiectasia syndrome|not provided | |
rs587776551 | ga4gh:VA._-y_c4TYBL5dNejl8OC7eTAL8ZhVsyhv | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs587776551 | ga4gh:VA._-y_c4TYBL5dNejl8OC7eTAL8ZhVsyhv | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs876660621 | ga4gh:VA.p58rkvbqu4wCuR6b2Q_3Q-C_8hczUCDQ | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs876660621 | ga4gh:VA.p58rkvbqu4wCuR6b2Q_3Q-C_8hczUCDQ | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs876660621 | ga4gh:VA.Vwj18R3hab9NKrTF8qOLLQVwdDPqnqkS | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs876660621 | ga4gh:VA.Vwj18R3hab9NKrTF8qOLLQVwdDPqnqkS | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs1555092219 | rs1555092219 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1555092219 | rs1555092219 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs887358871 | rs887358871 | ClinVar: likely_pathogenic (2★) — Ataxia-telangiectasia syndrome|Malignant tumor of breast|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Malignant tumor of breast|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast | |
rs887358871 | rs887358871 | ClinVar: likely_pathogenic (2★) — Ataxia-telangiectasia syndrome|Malignant tumor of breast|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Malignant tumor of breast|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast | |
rs1057517226 | ga4gh:VA.7OF614b8U3WBNF-3xn6tyPHJ0_RxuxUy | ClinVar: likely_pathogenic (1★) — Gastric cancer|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Gastric cancer|Hereditary cancer-predisposing syndrome | |
rs1057517226 | ga4gh:VA.7OF614b8U3WBNF-3xn6tyPHJ0_RxuxUy | ClinVar: likely_pathogenic (1★) — Gastric cancer|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Gastric cancer|Hereditary cancer-predisposing syndrome | |
rs1057517226 | ga4gh:VA.Ba94B3VrLvc2ARldDxaIpUboE55Xjo7Q | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1057517226 | ga4gh:VA.Ba94B3VrLvc2ARldDxaIpUboE55Xjo7Q | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1057517226 | ga4gh:VA.CI3_DXGLXuW3ImGgzNZAu8IMC3p-FNXp | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs1057517226 | ga4gh:VA.CI3_DXGLXuW3ImGgzNZAu8IMC3p-FNXp | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108282713:TTA:T | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
null | 11:108282713:TTA:T | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2546878802 | rs2546878802 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2546878802 | rs2546878802 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135686751 | rs2135686751 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2135686751 | rs2135686751 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2546878822 | rs2546878822 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2546878822 | rs2546878822 | ClinVar: pathogenic (2★) — Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs2546878833 | rs2546878833 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2546878833 | rs2546878833 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2546878915 | rs2546878915 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2546878915 | rs2546878915 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs1057517129 | rs1057517129 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1057517129 | rs1057517129 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2546879001 | rs2546879001 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2546879001 | rs2546879001 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2546879022 | rs2546879022 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2546879022 | rs2546879022 | ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs1555092297 | rs1555092297 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1555092297 | rs1555092297 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2546879056 | rs2546879056 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2546879056 | rs2546879056 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2546879086 | rs2546879086 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2546879086 | rs2546879086 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2546879122 | rs2546879122 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2546879122 | rs2546879122 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2082297073 | rs2082297073 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2082297073 | rs2082297073 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135687676 | rs2135687676 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135687676 | rs2135687676 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1555092317 | ga4gh:VA.bZy3YwmwSUKyDU1p84di3z81qA3o5gUq | ClinVar: pathogenic (2★) — ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Familial cancer of breast | |
rs1555092317 | ga4gh:VA.bZy3YwmwSUKyDU1p84di3z81qA3o5gUq | ClinVar: pathogenic (2★) — ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Familial cancer of breast | |
rs1555092317 | ga4gh:VA.VL7pTKQ7o2jfku27OkL61Xe76nUmoAip | ClinVar: pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1555092317 | ga4gh:VA.VL7pTKQ7o2jfku27OkL61Xe76nUmoAip | ClinVar: pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs876660783 | rs876660783 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast | |
rs876660783 | rs876660783 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast | |
rs772724024 | rs772724024 | ClinVar: pathogenic (2★) — not provided|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | not provided|Familial cancer of breast | |
rs772724024 | rs772724024 | ClinVar: pathogenic (2★) — not provided|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | not provided|Familial cancer of breast | |
rs2546879256 | rs2546879256 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2546879256 | rs2546879256 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs587782861 | rs587782861 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs587782861 | rs587782861 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2135688037 | rs2135688037 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2135688037 | rs2135688037 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome |
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