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 |
|---|---|---|---|---|---|---|---|
rs2091249987 | rs2091249987 | 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 | |
rs2091249987 | rs2091249987 | 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 | |
null | 11:108365428:CA:C | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108365428:CA:C | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108365430:AG:A | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | 11:108365430:AG:A | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
null | ga4gh:VA.E732vUfaw0zUGuL41CHUKO5eVQVhfcYQ | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.E732vUfaw0zUGuL41CHUKO5eVQVhfcYQ | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs866769874 | rs866769874 | ClinVar: likely_pathogenic (3★) — ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
rs866769874 | rs866769874 | ClinVar: likely_pathogenic (3★) — ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome | |
null | 11:108365443:A:ATT | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
null | 11:108365443:A:ATT | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome | |
rs2547686280 | rs2547686280 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547686280 | rs2547686280 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs1555152009 | rs1555152009 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Malignant tumor of urinary bladder|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Malignant tumor of urinary bladder|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs1555152009 | rs1555152009 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Malignant tumor of urinary bladder|Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Malignant tumor of urinary bladder|Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs587779878 | rs587779878 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs587779878 | rs587779878 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia syndrome|Familial cancer of breast | |
rs1591387978 | rs1591387978 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Gastric cancer|Ataxia-telangiectasia syndrome|Malignant tumor of urinary bladder|Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Gastric cancer|Ataxia-telangiectasia syndrome|Malignant tumor of urinary bladder|Familial cancer of breast | |
rs1591387978 | rs1591387978 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Gastric cancer|Ataxia-telangiectasia syndrome|Malignant tumor of urinary bladder|Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer-predisposing syndrome|Gastric cancer|Ataxia-telangiectasia syndrome|Malignant tumor of urinary bladder|Familial cancer of breast | |
rs2547686392 | rs2547686392 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547686392 | rs2547686392 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2547686641 | rs2547686641 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2547686641 | rs2547686641 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1591388094 | 11:108365463:C:CA | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1591388094 | 11:108365463:CA:C | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1591388094 | 11:108365463:C:CA | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1591388094 | 11:108365463:CA:C | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2137925596 | rs2137925596 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2137925596 | rs2137925596 | ClinVar: pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2137926139 | rs2137926139 | ClinVar: likely_pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2137926139 | rs2137926139 | ClinVar: likely_pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2547686901 | rs2547686901 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2547686901 | rs2547686901 | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs121434219 | rs121434219 | ClinVar: pathogenic (3★) — Inherited breast cancer and ovarian cancer|ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|not provided|Malignant tumor of urinary bladder|Ataxia-telangiectasia without immunodeficiency | genotype: heterozygous... | null | cancer | ATM | Inherited breast cancer and ovarian cancer|ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|not provided|Malignant tumor of urinary bladder|Ataxia-telangiectasia without immunodeficiency | |
rs121434219 | rs121434219 | ClinVar: pathogenic (3★) — Inherited breast cancer and ovarian cancer|ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|not provided|Malignant tumor of urinary bladder|Ataxia-telangiectasia without immunodeficiency | genotype: homozygous (... | null | cancer | ATM | Inherited breast cancer and ovarian cancer|ATM-related cancer predisposition|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|not provided|Malignant tumor of urinary bladder|Ataxia-telangiectasia without immunodeficiency | |
rs1555152058 | rs1555152058 | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1555152058 | rs1555152058 | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2091262473 | ga4gh:VA.WP5S_B_y4HwuP9VQ20wbTajEYRA97cvx | ClinVar: likely_pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2091262473 | ga4gh:VA.WP5S_B_y4HwuP9VQ20wbTajEYRA97cvx | ClinVar: likely_pathogenic (2★) — Familial cancer of breast|Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast|Ataxia-telangiectasia syndrome | |
rs2091262473 | ga4gh:VA.yWs8JmV2xItTph_be7cHxk3HEMk2LizG | ClinVar: likely_pathogenic (2★) — Hereditary cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Carcinoma of colon | genotype: heterozygous (one copy) | null | cancer | ATM | Hereditary cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Carcinoma of colon | |
rs2091262473 | ga4gh:VA.yWs8JmV2xItTph_be7cHxk3HEMk2LizG | ClinVar: likely_pathogenic (2★) — Hereditary cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Carcinoma of colon | genotype: homozygous (two copies) | null | cancer | ATM | Hereditary cancer|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Carcinoma of colon | |
rs2091262802 | rs2091262802 | 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 | |
rs2091262802 | rs2091262802 | 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 | |
rs2091262986 | ga4gh:VA.jgqO_Jv7-SWvJSlWq25OResFYfOPzW9V | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy) | null | cancer | ATM | Familial cancer of breast | |
rs2091262986 | ga4gh:VA.jgqO_Jv7-SWvJSlWq25OResFYfOPzW9V | ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies) | null | cancer | ATM | Familial cancer of breast | |
rs2091262986 | ga4gh:VA.ALf3YcTNiDQ1yKtbaAp6ts2Lwume49zq | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: heterozygous (one copy) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs2091262986 | ga4gh:VA.ALf3YcTNiDQ1yKtbaAp6ts2Lwume49zq | ClinVar: likely_pathogenic (1★) — Ataxia-telangiectasia syndrome | genotype: homozygous (two copies) | null | cancer | ATM | Ataxia-telangiectasia syndrome | |
rs1577488520 | rs1577488520 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs1577488520 | rs1577488520 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142457596:GTGATTACCTCAT:G | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142457596:GTGATTACCTCAT:G | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | ga4gh:VA.tpO5FqQb8EtqU_PQ8jr-KeI8ttqp3UMY | ClinVar: likely_pathogenic (1★) — Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | genotype: heterozygous (one copy) | null | cancer | ATR | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | |
null | ga4gh:VA.tpO5FqQb8EtqU_PQ8jr-KeI8ttqp3UMY | ClinVar: likely_pathogenic (1★) — Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | genotype: homozygous (two copies) | null | cancer | ATR | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | |
rs1196005889 | rs1196005889 | ClinVar: pathogenic (2★) — Seckel syndrome 1|not provided | genotype: heterozygous (one copy) | null | cancer | ATR | Seckel syndrome 1|not provided | |
rs1196005889 | rs1196005889 | ClinVar: pathogenic (2★) — Seckel syndrome 1|not provided | genotype: homozygous (two copies) | null | cancer | ATR | Seckel syndrome 1|not provided | |
rs2108257635 | rs2108257635 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108257635 | rs2108257635 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | ga4gh:VA.L_Ky9DNH1D9qgZmTo0ZP-uEzbOSHmeBz | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | ga4gh:VA.L_Ky9DNH1D9qgZmTo0ZP-uEzbOSHmeBz | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | ga4gh:VA.yEhF2n4gqSPuSB38icsTKf_Oen2D-F9m | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | ga4gh:VA.yEhF2n4gqSPuSB38icsTKf_Oen2D-F9m | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | ga4gh:VA.ya3nLMPvgvHXonOVNdHP4Pw5BMlI4Zgy | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | ga4gh:VA.ya3nLMPvgvHXonOVNdHP4Pw5BMlI4Zgy | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142459277:AG:A | ClinVar: likely_pathogenic (1★) — Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | genotype: heterozygous (one copy) | null | cancer | ATR | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | |
null | 3:142459277:AG:A | ClinVar: likely_pathogenic (1★) — Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | genotype: homozygous (two copies) | null | cancer | ATR | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | |
null | ga4gh:VA.FBCKJKlk83dKQtZMz2MSIlpUpajktxIt | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | ga4gh:VA.FBCKJKlk83dKQtZMz2MSIlpUpajktxIt | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs868378229 | rs868378229 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs868378229 | rs868378229 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs755021350 | rs755021350 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs755021350 | rs755021350 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108266332 | rs2108266332 | ClinVar: likely_pathogenic (2★) — not provided|Seckel syndrome 1 | genotype: heterozygous (one copy) | null | cancer | ATR | not provided|Seckel syndrome 1 | |
rs2108266332 | rs2108266332 | ClinVar: likely_pathogenic (2★) — not provided|Seckel syndrome 1 | genotype: homozygous (two copies) | null | cancer | ATR | not provided|Seckel syndrome 1 | |
rs1257971001 | rs1257971001 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs1257971001 | rs1257971001 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | ga4gh:VA.8aPdLiPzwi5XJHKHc8LPuiGCi8iH_U76 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | ga4gh:VA.8aPdLiPzwi5XJHKHc8LPuiGCi8iH_U76 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs587777852 | rs587777852 | ClinVar: pathogenic (2★) — ATR-related disorder|not provided|Seckel syndrome 1 | genotype: heterozygous (one copy) | null | cancer | ATR | ATR-related disorder|not provided|Seckel syndrome 1 | |
rs587777852 | rs587777852 | ClinVar: pathogenic (2★) — ATR-related disorder|not provided|Seckel syndrome 1 | genotype: homozygous (two copies) | null | cancer | ATR | ATR-related disorder|not provided|Seckel syndrome 1 | |
rs749656305 | rs749656305 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs749656305 | rs749656305 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142466415:GTA:G | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142466415:GTA:G | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | ga4gh:VA.1WsBZ4xfySh1wqjAPdoQD29rMqx_iCbI | ClinVar: likely_pathogenic (1★) — Seckel syndrome 1 | genotype: heterozygous (one copy) | null | cancer | ATR | Seckel syndrome 1 | |
null | ga4gh:VA.1WsBZ4xfySh1wqjAPdoQD29rMqx_iCbI | ClinVar: likely_pathogenic (1★) — Seckel syndrome 1 | genotype: homozygous (two copies) | null | cancer | ATR | Seckel syndrome 1 | |
null | ga4gh:VA.0EN5Zsgb1i9fRCS29pHkD4TG5LXqacKr | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | ga4gh:VA.0EN5Zsgb1i9fRCS29pHkD4TG5LXqacKr | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2071168232 | rs2071168232 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2071168232 | rs2071168232 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2473065347 | rs2473065347 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2473065347 | rs2473065347 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | ga4gh:VA.2HNgcxj1xcM5azfKp556-pQQKNhCQGDY | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | ga4gh:VA.2HNgcxj1xcM5azfKp556-pQQKNhCQGDY | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2071205632 | rs2071205632 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2071205632 | rs2071205632 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108279172 | rs2108279172 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ATR | Inborn genetic diseases | |
rs2108279172 | rs2108279172 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ATR | Inborn genetic diseases | |
rs201786773 | rs201786773 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs201786773 | rs201786773 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided |
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