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