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 |
|---|---|---|---|---|---|---|---|
rs1043355995 | rs1043355995 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs1043355995 | rs1043355995 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2473356749 | rs2473356749 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2473356749 | rs2473356749 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs199731535 | rs199731535 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs199731535 | rs199731535 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs1559984993 | 3:142549537:G:GA | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs1559984993 | 3:142549537:GA:G | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs1559984993 | 3:142549537:G:GA | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs1559984993 | 3:142549537:GA:G | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs1453839157 | rs1453839157 | ClinVar: pathogenic (1★) — not provided|Seckel syndrome 1 | genotype: heterozygous (one copy) | null | cancer | ATR | not provided|Seckel syndrome 1 | |
rs1453839157 | rs1453839157 | ClinVar: pathogenic (1★) — not provided|Seckel syndrome 1 | genotype: homozygous (two copies) | null | cancer | ATR | not provided|Seckel syndrome 1 | |
rs2108456024 | rs2108456024 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108456024 | rs2108456024 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2473367671 | rs2473367671 | ClinVar: pathogenic (2★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2473367671 | rs2473367671 | ClinVar: pathogenic (2★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs868169034 | rs868169034 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs868169034 | rs868169034 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2473380542 | rs2473380542 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2473380542 | rs2473380542 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108462660 | rs2108462660 | ClinVar: pathogenic (2★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108462660 | rs2108462660 | ClinVar: pathogenic (2★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2473381097 | rs2473381097 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2473381097 | rs2473381097 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs372271245 | rs372271245 | ClinVar: likely_pathogenic (2★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs372271245 | rs372271245 | ClinVar: likely_pathogenic (2★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108464344 | rs2108464344 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108464344 | rs2108464344 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs755272769 | rs755272769 | ClinVar: likely_pathogenic (2★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs755272769 | rs755272769 | ClinVar: likely_pathogenic (2★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142553956:CT:C | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142553956:CT:C | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142553999:TA:T | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142553999:TA:T | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108466164 | rs2108466164 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108466164 | rs2108466164 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs757500301 | 3:142555897:A:AT | ClinVar: pathogenic (2★) — not provided|Seckel syndrome 1|Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | genotype: heterozygous (one copy) | null | cancer | ATR | not provided|Seckel syndrome 1|Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | |
rs757500301 | 3:142555897:AT:A | ClinVar: pathogenic (2★) — not provided|Seckel syndrome 1|Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | genotype: heterozygous (one copy) | null | cancer | ATR | not provided|Seckel syndrome 1|Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | |
rs757500301 | 3:142555897:A:AT | ClinVar: pathogenic (2★) — not provided|Seckel syndrome 1|Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | genotype: homozygous (two copies) | null | cancer | ATR | not provided|Seckel syndrome 1|Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | |
rs757500301 | 3:142555897:AT:A | ClinVar: pathogenic (2★) — not provided|Seckel syndrome 1|Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | genotype: homozygous (two copies) | null | cancer | ATR | not provided|Seckel syndrome 1|Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | |
null | ga4gh:VA.xtAk2StFFwr6bVMzFgmLktSRRHHB4Uca | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | ga4gh:VA.xtAk2StFFwr6bVMzFgmLktSRRHHB4Uca | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs373600572 | rs373600572 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs373600572 | rs373600572 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs1460933711 | rs1460933711 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs1460933711 | rs1460933711 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2473398886 | rs2473398886 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2473398886 | rs2473398886 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142556515:AG:A | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142556515:AG:A | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2034767360 | rs2034767360 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2034767360 | rs2034767360 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2034767520 | rs2034767520 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2034767520 | rs2034767520 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108477090 | rs2108477090 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108477090 | rs2108477090 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108478067 | rs2108478067 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108478067 | rs2108478067 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2473411186 | rs2473411186 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2473411186 | rs2473411186 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142559365:AAAAATCC:A | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142559365:AAAAATCC:A | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2034829087 | rs2034829087 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2034829087 | rs2034829087 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs1417190717 | rs1417190717 | ClinVar: pathogenic (2★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs1417190717 | rs1417190717 | ClinVar: pathogenic (2★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | ga4gh:VA.bs133SAgFCq08O_TsFy_9WXwUF1LZm6j | 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 | ga4gh:VA.bs133SAgFCq08O_TsFy_9WXwUF1LZm6j | 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 | |
rs2034835255 | rs2034835255 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2034835255 | rs2034835255 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108485039 | rs2108485039 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108485039 | rs2108485039 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142562353:AG:A | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142562353:AG:A | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs773937499 | rs773937499 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs773937499 | rs773937499 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142562717:G:GT | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142562717:G:GT | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | ga4gh:VA.i3UDfcYdWhQo01J089XnNOGlh0Va3tG5 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | ga4gh:VA.i3UDfcYdWhQo01J089XnNOGlh0Va3tG5 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs1173523308 | rs1173523308 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs1173523308 | rs1173523308 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | ga4gh:VA.6jXPoVzwGqCQrm8hNyfuspf_cMvQEaPq | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | ga4gh:VA.6jXPoVzwGqCQrm8hNyfuspf_cMvQEaPq | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142562934:CAA:C | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142562934:CAA:C | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142562942:CA:C | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142562942:CA:C | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2473429555 | rs2473429555 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2473429555 | rs2473429555 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142562954:A:AT | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142562954:A:AT | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | ga4gh:VA.FmfvF3Xj62iObo3KnL3dvtp1A_B3vt9i | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | ga4gh:VA.FmfvF3Xj62iObo3KnL3dvtp1A_B3vt9i | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2473429687 | rs2473429687 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2473429687 | rs2473429687 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2108488694 | rs2108488694 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2108488694 | rs2108488694 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142563059:AG:A | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142563059:AG:A | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided |
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