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 |
|---|---|---|---|---|---|---|---|
rs1577513795 | rs1577513795 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs1577513795 | rs1577513795 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | ga4gh:VA.waeZ8fmZnZLqZIOKjG_3oJQpTg-WU_j2 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | ga4gh:VA.waeZ8fmZnZLqZIOKjG_3oJQpTg-WU_j2 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108311768 | rs2108311768 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108311768 | rs2108311768 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2473142622 | rs2473142622 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2473142622 | rs2473142622 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs148465901 | rs148465901 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs148465901 | rs148465901 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2031394526 | rs2031394526 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2031394526 | rs2031394526 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108333550 | rs2108333550 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108333550 | rs2108333550 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs757788141 | rs757788141 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs757788141 | rs757788141 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs758234545 | rs758234545 | ClinVar: pathogenic (2★) — not provided|Seckel syndrome 1|Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ATR | not provided|Seckel syndrome 1|Inborn genetic diseases | |
rs758234545 | rs758234545 | ClinVar: pathogenic (2★) — not provided|Seckel syndrome 1|Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ATR | not provided|Seckel syndrome 1|Inborn genetic diseases | |
rs2108333799 | rs2108333799 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108333799 | rs2108333799 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2473157747 | rs2473157747 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2473157747 | rs2473157747 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108335952 | rs2108335952 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108335952 | rs2108335952 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs141429029 | rs141429029 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs141429029 | rs141429029 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2473158913 | rs2473158913 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2473158913 | rs2473158913 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108336968 | rs2108336968 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108336968 | rs2108336968 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs754030624 | rs754030624 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs754030624 | rs754030624 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142503385:CTGAG:C | ClinVar: likely_pathogenic (2★) — not provided|Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | genotype: heterozygous (one copy) | null | cancer | ATR | not provided|Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | |
null | 3:142503385:CTGAG:C | ClinVar: likely_pathogenic (2★) — not provided|Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | genotype: homozygous (two copies) | null | cancer | ATR | not provided|Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | |
rs2108351820 | rs2108351820 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108351820 | rs2108351820 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs1553760567 | rs1553760567 | ClinVar: pathogenic (2★) — Cornelia de Lange syndrome 1|Seckel syndrome 1 | genotype: heterozygous (one copy) | null | cancer | ATR | Cornelia de Lange syndrome 1|Seckel syndrome 1 | |
rs1553760567 | rs1553760567 | ClinVar: pathogenic (2★) — Cornelia de Lange syndrome 1|Seckel syndrome 1 | genotype: homozygous (two copies) | null | cancer | ATR | Cornelia de Lange syndrome 1|Seckel syndrome 1 | |
rs773596047 | rs773596047 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs773596047 | rs773596047 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs778813551 | rs778813551 | ClinVar: pathogenic (2★) — Seckel syndrome 1|Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome|Hereditary cancer-predisposing syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ATR | Seckel syndrome 1|Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome|Hereditary cancer-predisposing syndrome|not provided | |
rs778813551 | rs778813551 | ClinVar: pathogenic (2★) — Seckel syndrome 1|Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome|Hereditary cancer-predisposing syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ATR | Seckel syndrome 1|Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome|Hereditary cancer-predisposing syndrome|not provided | |
rs1489580832 | rs1489580832 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs1489580832 | rs1489580832 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142508049:TG:T | ClinVar: likely_pathogenic (1★) — Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome|Seckel syndrome 1 | genotype: heterozygous (one copy) | null | cancer | ATR | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome|Seckel syndrome 1 | |
null | 3:142508049:TG:T | ClinVar: likely_pathogenic (1★) — Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome|Seckel syndrome 1 | genotype: homozygous (two copies) | null | cancer | ATR | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome|Seckel syndrome 1 | |
rs2108361316 | rs2108361316 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108361316 | rs2108361316 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108361393 | rs2108361393 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108361393 | rs2108361393 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108361516 | rs2108361516 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108361516 | rs2108361516 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142512391:C:CA | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142512391:C:CA | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2473217995 | rs2473217995 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2473217995 | rs2473217995 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs797045403 | rs797045403 | ClinVar: pathogenic (1★) — Seckel syndrome 1 | genotype: heterozygous (one copy) | null | cancer | ATR | Seckel syndrome 1 | |
rs797045403 | rs797045403 | ClinVar: pathogenic (1★) — Seckel syndrome 1 | genotype: homozygous (two copies) | null | cancer | ATR | Seckel syndrome 1 | |
null | 3:142513545:GA:G | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142513545:GA:G | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs754602382 | rs754602382 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs754602382 | rs754602382 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs910635641 | rs910635641 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs910635641 | rs910635641 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs770800988 | rs770800988 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs770800988 | rs770800988 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs1194388677 | rs1194388677 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs1194388677 | rs1194388677 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108399800 | rs2108399800 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108399800 | rs2108399800 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142535135:AC:A | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142535135:AC:A | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142535148:GA:G | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142535148:GA:G | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108425112 | rs2108425112 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108425112 | rs2108425112 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108427429 | rs2108427429 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108427429 | rs2108427429 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108427672 | rs2108427672 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108427672 | rs2108427672 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | ga4gh:VA.G9gmERAJGsF17lXSYLoJYGI88l8_utx9 | ClinVar: likely_pathogenic (1★) — Seckel syndrome 1 | genotype: heterozygous (one copy) | null | cancer | ATR | Seckel syndrome 1 | |
null | ga4gh:VA.G9gmERAJGsF17lXSYLoJYGI88l8_utx9 | ClinVar: likely_pathogenic (1★) — Seckel syndrome 1 | genotype: homozygous (two copies) | null | cancer | ATR | Seckel syndrome 1 | |
null | 3:142538484:GT:G | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142538484:GT:G | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2473318061 | rs2473318061 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2473318061 | rs2473318061 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108437904 | rs2108437904 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108437904 | rs2108437904 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | ga4gh:VA.U0FLwqOGNh53F5dA-fkFA7UCYUbiRb1R | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | ga4gh:VA.U0FLwqOGNh53F5dA-fkFA7UCYUbiRb1R | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2473328198 | rs2473328198 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2473328198 | rs2473328198 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs587777851 | rs587777851 | ClinVar: pathogenic (1★) — not provided|Seckel syndrome 1 | genotype: heterozygous (one copy) | null | cancer | ATR | not provided|Seckel syndrome 1 | |
rs587777851 | rs587777851 | ClinVar: pathogenic (1★) — not provided|Seckel syndrome 1 | genotype: homozygous (two copies) | null | cancer | ATR | not provided|Seckel syndrome 1 | |
rs2473328720 | rs2473328720 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2473328720 | rs2473328720 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | ga4gh:VA.RciPyQo8rUnqu17itBEEbLltYcbgSNwL | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | ga4gh:VA.RciPyQo8rUnqu17itBEEbLltYcbgSNwL | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108441280 | rs2108441280 | ClinVar: pathogenic (2★) — not provided|Seckel syndrome 1 | genotype: heterozygous (one copy) | null | cancer | ATR | not provided|Seckel syndrome 1 | |
rs2108441280 | rs2108441280 | ClinVar: pathogenic (2★) — not provided|Seckel syndrome 1 | genotype: homozygous (two copies) | null | cancer | ATR | not provided|Seckel syndrome 1 |
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