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 |
|---|---|---|---|---|---|---|---|
rs770236437 | rs770236437 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs770236437 | rs770236437 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
null | ga4gh:VA.da-pXZEF0VZysbB_vXAMKXH8v_N5ibji | ClinVar: pathogenic (1★) — Kennedy disease|Hypospadias 1, X-linked|Partial androgen insensitivity syndrome|Prostate cancer, hereditary, X-linked 3|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Hypospadias 1, X-linked|Partial androgen insensitivity syndrome|Prostate cancer, hereditary, X-linked 3|Androgen resistance syndrome | |
null | ga4gh:VA.da-pXZEF0VZysbB_vXAMKXH8v_N5ibji | ClinVar: pathogenic (1★) — Kennedy disease|Hypospadias 1, X-linked|Partial androgen insensitivity syndrome|Prostate cancer, hereditary, X-linked 3|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Hypospadias 1, X-linked|Partial androgen insensitivity syndrome|Prostate cancer, hereditary, X-linked 3|Androgen resistance syndrome | |
rs2147317628 | rs2147317628 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AR | not provided | |
rs2147317628 | rs2147317628 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AR | not provided | |
rs2147317782 | rs2147317782 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AR | not provided | |
rs2147317782 | rs2147317782 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AR | not provided | |
rs1555969670 | rs1555969670 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AR | not provided | |
rs1555969670 | rs1555969670 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AR | not provided | |
rs2519604950 | rs2519604950 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs2519604950 | rs2519604950 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1555969684 | rs1555969684 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs1555969684 | rs1555969684 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs2147318231 | rs2147318231 | ClinVar: pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome | |
rs2147318231 | rs2147318231 | ClinVar: pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome | |
rs1602144034 | rs1602144034 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1602144034 | rs1602144034 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1569264288 | rs1569264288 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1569264288 | rs1569264288 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs2147318663 | rs2147318663 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs2147318663 | rs2147318663 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
null | X:67546073:TTC:T | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
null | X:67546073:TTC:T | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs1602144278 | rs1602144278 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AR | not provided | |
rs1602144278 | rs1602144278 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AR | not provided | |
null | X:67546109:AG:A | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
null | X:67546109:AG:A | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs1021234843 | rs1021234843 | ClinVar: pathogenic (2★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1021234843 | rs1021234843 | ClinVar: pathogenic (2★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
null | X:67546150:G:GCTCC | ClinVar: pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome | |
null | X:67546150:G:GCTCC | ClinVar: pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome | |
rs1131691710 | rs1131691710 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AR | not provided | |
rs1131691710 | rs1131691710 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AR | not provided | |
rs1602144428 | rs1602144428 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AR | not provided | |
rs1602144428 | rs1602144428 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AR | not provided | |
null | ga4gh:VA.geLz6jfOkwQNR6O2dqYf0O2hYrycP-EB | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
null | ga4gh:VA.geLz6jfOkwQNR6O2dqYf0O2hYrycP-EB | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs367604031 | rs367604031 | ClinVar: pathogenic (2★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs367604031 | rs367604031 | ClinVar: pathogenic (2★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
null | ga4gh:VA.vZWEwechaPGCf0X2U3x8Gdtygd_T5L_0 | ClinVar: pathogenic (1★) — Complete androgen insensitivity syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Complete androgen insensitivity syndrome | |
null | ga4gh:VA.vZWEwechaPGCf0X2U3x8Gdtygd_T5L_0 | ClinVar: pathogenic (1★) — Complete androgen insensitivity syndrome | genotype: homozygous (two copies) | null | cancer | AR | Complete androgen insensitivity syndrome | |
rs2519608153 | rs2519608153 | ClinVar: likely_pathogenic (1★) — AR-related disorder | genotype: heterozygous (one copy) | null | cancer | AR | AR-related disorder | |
rs2519608153 | rs2519608153 | ClinVar: likely_pathogenic (1★) — AR-related disorder | genotype: homozygous (two copies) | null | cancer | AR | AR-related disorder | |
rs2519608457 | rs2519608457 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs2519608457 | rs2519608457 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs555361360 | rs555361360 | ClinVar: likely_pathogenic (1★) — Ovarian cancer | genotype: heterozygous (one copy) | null | cancer | AR | Ovarian cancer | |
rs555361360 | rs555361360 | ClinVar: likely_pathogenic (1★) — Ovarian cancer | genotype: homozygous (two copies) | null | cancer | AR | Ovarian cancer | |
rs2519608703 | rs2519608703 | ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome | |
rs2519608703 | rs2519608703 | ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome | |
rs1555969807 | rs1555969807 | ClinVar: pathogenic (1★) — not provided|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | not provided|Androgen resistance syndrome | |
rs1555969807 | rs1555969807 | ClinVar: pathogenic (1★) — not provided|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | not provided|Androgen resistance syndrome | |
rs774645775 | rs774645775 | ClinVar: pathogenic (1★) — Prostate cancer | genotype: heterozygous (one copy) | null | cancer | AR | Prostate cancer | |
rs774645775 | rs774645775 | ClinVar: pathogenic (1★) — Prostate cancer | genotype: homozygous (two copies) | null | cancer | AR | Prostate cancer | |
rs772490323 | rs772490323 | ClinVar: pathogenic (1★) — Prostate cancer | genotype: heterozygous (one copy) | null | cancer | AR | Prostate cancer | |
rs772490323 | rs772490323 | ClinVar: pathogenic (1★) — Prostate cancer | genotype: homozygous (two copies) | null | cancer | AR | Prostate cancer | |
null | ga4gh:VA.F1WzcQF3dklIhxFHqOPJX3Gw1eUV2K33 | ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome | |
null | ga4gh:VA.F1WzcQF3dklIhxFHqOPJX3Gw1eUV2K33 | ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome | |
rs2519608979 | rs2519608979 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs2519608979 | rs2519608979 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
null | ga4gh:VA.bCJSF4EE7Cz8dsiA2E4Ex6BPY_xyG4PG | ClinVar: pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome | |
null | ga4gh:VA.bCJSF4EE7Cz8dsiA2E4Ex6BPY_xyG4PG | ClinVar: pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome | |
rs2147321167 | rs2147321167 | ClinVar: likely_pathogenic (1★) — Male infertility with azoospermia or oligozoospermia due to single gene mutation | genotype: heterozygous (one copy) | null | cancer | AR | Male infertility with azoospermia or oligozoospermia due to single gene mutation | |
rs2147321167 | rs2147321167 | ClinVar: likely_pathogenic (1★) — Male infertility with azoospermia or oligozoospermia due to single gene mutation | genotype: homozygous (two copies) | null | cancer | AR | Male infertility with azoospermia or oligozoospermia due to single gene mutation | |
null | X:67546451:G:GCACA | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
null | X:67546451:G:GCACA | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs1602144930 | rs1602144930 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1602144930 | rs1602144930 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1929749440 | rs1929749440 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1929749440 | rs1929749440 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs2519609985 | rs2519609985 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs2519609985 | rs2519609985 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs2519610009 | rs2519610009 | ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome | |
rs2519610009 | rs2519610009 | ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome | |
null | X:67546489:G:GAT | ClinVar: pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome | |
null | X:67546489:G:GAT | ClinVar: pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome | |
rs2147321608 | rs2147321608 | ClinVar: likely_pathogenic (1★) — Ovarian cancer | genotype: heterozygous (one copy) | null | cancer | AR | Ovarian cancer | |
rs2147321608 | rs2147321608 | ClinVar: likely_pathogenic (1★) — Ovarian cancer | genotype: homozygous (two copies) | null | cancer | AR | Ovarian cancer | |
rs2147322083 | rs2147322083 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AR | not provided | |
rs2147322083 | rs2147322083 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AR | not provided | |
rs1441671810 | rs1441671810 | ClinVar: likely_pathogenic (1★) — Ovarian cancer | genotype: heterozygous (one copy) | null | cancer | AR | Ovarian cancer | |
rs1441671810 | rs1441671810 | ClinVar: likely_pathogenic (1★) — Ovarian cancer | genotype: homozygous (two copies) | null | cancer | AR | Ovarian cancer | |
rs1555970004 | rs1555970004 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs1555970004 | rs1555970004 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs766161615 | ga4gh:VA.8exEOSGbr7dTHWkBfvIX1Yo0hWifUJTq | ClinVar: pathogenic (2★) — Kennedy disease|Androgen resistance syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome|not provided | |
rs766161615 | ga4gh:VA.8exEOSGbr7dTHWkBfvIX1Yo0hWifUJTq | ClinVar: pathogenic (2★) — Kennedy disease|Androgen resistance syndrome|not provided | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome|not provided | |
rs766161615 | ga4gh:VA.Wd4wBK-NhgdckoFK9t7_McKJXZ6Rjo8v | ClinVar: pathogenic (2★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs766161615 | ga4gh:VA.Wd4wBK-NhgdckoFK9t7_McKJXZ6Rjo8v | ClinVar: pathogenic (2★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1569265331 | rs1569265331 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1569265331 | rs1569265331 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1929773822 | rs1929773822 | ClinVar: pathogenic (2★) — not provided|Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | not provided|Androgen resistance syndrome|Kennedy disease | |
rs1929773822 | rs1929773822 | ClinVar: pathogenic (2★) — not provided|Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | not provided|Androgen resistance syndrome|Kennedy disease | |
null | X:67546607:TC:T | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
null | X:67546607:TC:T | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs1929774367 | rs1929774367 | ClinVar: pathogenic (1★) — not provided|Pure gonadal dysgenesis 46,XY | genotype: heterozygous (one copy) | null | cancer | AR | not provided|Pure gonadal dysgenesis 46,XY | |
rs1929774367 | rs1929774367 | ClinVar: pathogenic (1★) — not provided|Pure gonadal dysgenesis 46,XY | genotype: homozygous (two copies) | null | cancer | AR | not provided|Pure gonadal dysgenesis 46,XY | |
rs2147322621 | rs2147322621 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs2147322621 | rs2147322621 | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
null | X:67546632:GA:G | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
null | X:67546632:GA:G | ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome |
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