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 |
|---|---|---|---|---|---|---|---|
rs750174880 | rs750174880 | ClinVar: likely_pathogenic (1★) — Ovarian cancer | genotype: heterozygous (one copy) | null | cancer | APC | Ovarian cancer | |
rs750174880 | rs750174880 | ClinVar: likely_pathogenic (1★) — Ovarian cancer | genotype: homozygous (two copies) | null | cancer | APC | Ovarian cancer | |
null | 5:112843631:T:TC | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
null | 5:112843631:T:TC | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
rs1114167604 | rs1114167604 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
rs1114167604 | rs1114167604 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
rs1580690024 | rs1580690024 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
rs1580690024 | rs1580690024 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
rs2533847974 | rs2533847974 | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs2533847974 | rs2533847974 | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs2533848206 | rs2533848206 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
rs2533848206 | rs2533848206 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
null | 5:112843764:TC:T | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
null | 5:112843764:TC:T | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
rs2533853059 | rs2533853059 | ClinVar: likely_pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs2533853059 | rs2533853059 | ClinVar: likely_pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs2533860179 | rs2533860179 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
rs2533860179 | rs2533860179 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
null | 5:112844025:AACAAC:A | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
null | 5:112844025:AACAAC:A | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
null | 5:112844122:TTTA:T | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
null | 5:112844122:TTTA:T | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.WdHiANuocDQZrfqzu7vABpDZqTEW-gbG | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.WdHiANuocDQZrfqzu7vABpDZqTEW-gbG | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
rs2147313671 | rs2147313671 | ClinVar: pathogenic (2★) — Androgen resistance syndrome|Kennedy disease|Differences in sex development | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease|Differences in sex development | |
rs2147313671 | rs2147313671 | ClinVar: pathogenic (2★) — Androgen resistance syndrome|Kennedy disease|Differences in sex development | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease|Differences in sex development | |
null | ga4gh:VA.kyTA45ZI5-yBPuJMI4Ljj_a1rSORmeYH | ClinVar: pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome | |
null | ga4gh:VA.kyTA45ZI5-yBPuJMI4Ljj_a1rSORmeYH | ClinVar: pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome | |
rs2519599125 | rs2519599125 | ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome | |
rs2519599125 | rs2519599125 | ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome | |
rs2519599390 | rs2519599390 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AR | not provided | |
rs2519599390 | rs2519599390 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AR | not provided | |
null | X:67545305:T:TTTG | ClinVar: likely_pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
null | X:67545305:T:TTTG | ClinVar: likely_pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs1602143232 | rs1602143232 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1602143232 | rs1602143232 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
null | ga4gh:VA.zWP5SC1mkaPECds4YScJtfOleKe-uSPM | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AR | not provided | |
null | ga4gh:VA.zWP5SC1mkaPECds4YScJtfOleKe-uSPM | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AR | not provided | |
rs1929657778 | rs1929657778 | ClinVar: pathogenic (2★) — Androgen resistance syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|not provided | |
rs1929657778 | rs1929657778 | ClinVar: pathogenic (2★) — Androgen resistance syndrome|not provided | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|not provided | |
rs137852575 | rs137852575 | ClinVar: pathogenic (1★) — not provided|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | not provided|Androgen resistance syndrome | |
rs137852575 | rs137852575 | ClinVar: pathogenic (1★) — not provided|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | not provided|Androgen resistance syndrome | |
rs1929660142 | rs1929660142 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1929660142 | rs1929660142 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs2147314874 | rs2147314874 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs2147314874 | rs2147314874 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs1302894198 | rs1302894198 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs1302894198 | rs1302894198 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs1569263557 | rs1569263557 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1569263557 | rs1569263557 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1929664860 | rs1929664860 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AR | not provided | |
rs1929664860 | rs1929664860 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AR | not provided | |
rs1281274698 | rs1281274698 | ClinVar: pathogenic (1★) — Prostate cancer | genotype: heterozygous (one copy) | null | cancer | AR | Prostate cancer | |
rs1281274698 | rs1281274698 | ClinVar: pathogenic (1★) — Prostate cancer | genotype: homozygous (two copies) | null | cancer | AR | Prostate cancer | |
rs1199988820 | rs1199988820 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1199988820 | rs1199988820 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs886041129 | rs886041129 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|not provided | |
rs886041129 | rs886041129 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|not provided | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|not provided | |
rs2519600811 | rs2519600811 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs2519600811 | rs2519600811 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1555969528 | rs1555969528 | ClinVar: pathogenic (1★) — Aplasia of the uterus|Female external genitalia in individual with 46,XY karyotype|Absent pubic hair|Absent axillary hair | genotype: heterozygous (one copy) | null | cancer | AR | Aplasia of the uterus|Female external genitalia in individual with 46,XY karyotype|Absent pubic hair|Absent axillary hair | |
rs1555969528 | rs1555969528 | ClinVar: pathogenic (1★) — Aplasia of the uterus|Female external genitalia in individual with 46,XY karyotype|Absent pubic hair|Absent axillary hair | genotype: homozygous (two copies) | null | cancer | AR | Aplasia of the uterus|Female external genitalia in individual with 46,XY karyotype|Absent pubic hair|Absent axillary hair | |
null | ga4gh:VA.rksOPxljdI2SH-6RJyn-fm3hmiNzaMBF | ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome | |
null | ga4gh:VA.rksOPxljdI2SH-6RJyn-fm3hmiNzaMBF | ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome | |
null | X:67545385:A:AGC | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
null | X:67545385:A:AGC | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs1569263642 | rs1569263642 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1569263642 | rs1569263642 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
null | X:67545385:AAG:A | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
null | X:67545385:AAG:A | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
null | X:67545387:G:GCA | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
null | X:67545387:G:GCA | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs1555969545 | rs1555969545 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1555969545 | rs1555969545 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs112374098 | rs112374098 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs112374098 | rs112374098 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1555969553 | rs1555969553 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs1555969553 | rs1555969553 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs2519601426 | rs2519601426 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs2519601426 | rs2519601426 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs1481151440 | rs1481151440 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1481151440 | rs1481151440 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs2519601620 | rs2519601620 | ClinVar: pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome | |
rs2519601620 | rs2519601620 | ClinVar: pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome | |
rs2519601643 | rs2519601643 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs2519601643 | rs2519601643 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
null | X:67545493:CT:C | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AR | not provided | |
null | X:67545493:CT:C | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AR | not provided | |
rs1929683441 | rs1929683441 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs1929683441 | rs1929683441 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs1131691761 | rs1131691761 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AR | not provided | |
rs1131691761 | rs1131691761 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AR | not provided | |
rs1602143677 | rs1602143677 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AR | not provided | |
rs1602143677 | rs1602143677 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AR | not provided | |
rs764126853 | rs764126853 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs764126853 | rs764126853 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
null | X:67545609:GAGGATGACTC:G | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
null | X:67545609:GAGGATGACTC:G | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs2519603661 | rs2519603661 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs2519603661 | rs2519603661 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome |
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