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
rs2147322941
rs2147322941
ClinVar: pathogenic (2★) — Androgen resistance syndrome|AR-related disorder | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome|AR-related disorder
rs2147322941
rs2147322941
ClinVar: pathogenic (2★) — Androgen resistance syndrome|AR-related disorder | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome|AR-related disorder
rs2147323184
rs2147323184
ClinVar: pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome
rs2147323184
rs2147323184
ClinVar: pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome
rs2519612464
rs2519612464
ClinVar: pathogenic (2★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs2519612464
rs2519612464
ClinVar: pathogenic (2★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs1555970042
ga4gh:VA.IH7vQmfcv_vzNku8Wn_zPcsoB8FWYWuk
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AR
not provided
rs1555970042
ga4gh:VA.IH7vQmfcv_vzNku8Wn_zPcsoB8FWYWuk
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AR
not provided
rs1555970042
ga4gh:VA.9DHBu2jo6n0H1Fd_z8zsxga_bx7xUt06
ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome
rs1555970042
ga4gh:VA.9DHBu2jo6n0H1Fd_z8zsxga_bx7xUt06
ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome
rs1569265470
rs1569265470
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs1569265470
rs1569265470
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs1925886368
rs1925886368
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs1925886368
rs1925886368
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs2147436378
rs2147436378
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs2147436378
rs2147436378
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs1555982864
rs1555982864
ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome
rs1555982864
rs1555982864
ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome
rs1925886715
rs1925886715
ClinVar: pathogenic (2★) — Androgen resistance syndrome|AR-related disorder|Kennedy disease | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome|AR-related disorder|Kennedy disease
rs1925886715
rs1925886715
ClinVar: pathogenic (2★) — Androgen resistance syndrome|AR-related disorder|Kennedy disease | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome|AR-related disorder|Kennedy disease
rs1057521121
rs1057521121
ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AR
not provided
rs1057521121
rs1057521121
ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AR
not provided
rs1602220874
rs1602220874
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs1602220874
rs1602220874
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
null
ga4gh:VA.WcTT32YsnB4NF_NaSHQWU7LJatPKWfO5
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
null
ga4gh:VA.WcTT32YsnB4NF_NaSHQWU7LJatPKWfO5
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs1555982879
rs1555982879
ClinVar: likely_pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome
rs1555982879
rs1555982879
ClinVar: likely_pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome
rs2147436590
rs2147436590
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs2147436590
rs2147436590
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs746207524
rs746207524
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome
rs746207524
rs746207524
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome
rs2147436623
rs2147436623
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome
rs2147436623
rs2147436623
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome
null
ga4gh:VA.m5bRTPZ_mVn1xo9cByDH6bL2e4EdkW8n
ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AR
not provided
null
ga4gh:VA.m5bRTPZ_mVn1xo9cByDH6bL2e4EdkW8n
ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AR
not provided
rs6154
rs6154
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs6154
rs6154
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
null
X:67643383:GTCT:G
ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome
null
X:67643383:GTCT:G
ClinVar: pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome
rs2147436658
rs2147436658
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome
rs2147436658
rs2147436658
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome
null
ga4gh:VA.Z3e4AWn5-A9KDhKkAZMKi8JYEyqsVtmQ
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome
null
ga4gh:VA.Z3e4AWn5-A9KDhKkAZMKi8JYEyqsVtmQ
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome
null
ga4gh:VA.Mw16tHNUcPVrPQmYQttIqlmyi9XmEC1D
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome
null
ga4gh:VA.Mw16tHNUcPVrPQmYQttIqlmyi9XmEC1D
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome
rs767711979
rs767711979
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs767711979
rs767711979
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
null
ga4gh:VA.HYBUYnWtgrpU9FkQooNQRwg3uUyShaI1
ClinVar: likely_pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome
null
ga4gh:VA.HYBUYnWtgrpU9FkQooNQRwg3uUyShaI1
ClinVar: likely_pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome
null
ga4gh:VA.62OtFzqSTR9C0d6SwM0raEWGJUDdny7Z
ClinVar: likely_pathogenic (1★) — Differences in sex development | genotype: heterozygous (one copy)
null
cancer
AR
Differences in sex development
null
ga4gh:VA.62OtFzqSTR9C0d6SwM0raEWGJUDdny7Z
ClinVar: likely_pathogenic (1★) — Differences in sex development | genotype: homozygous (two copies)
null
cancer
AR
Differences in sex development
rs1034866440
rs1034866440
ClinVar: pathogenic (2★) — not provided|Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
not provided|Androgen resistance syndrome
rs1034866440
rs1034866440
ClinVar: pathogenic (2★) — not provided|Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
not provided|Androgen resistance syndrome
rs2147436755
rs2147436755
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome
rs2147436755
rs2147436755
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome
rs1555982894
rs1555982894
ClinVar: pathogenic (2★) — not provided|Partial androgen insensitivity syndrome|Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
not provided|Partial androgen insensitivity syndrome|Androgen resistance syndrome
rs1555982894
rs1555982894
ClinVar: pathogenic (2★) — not provided|Partial androgen insensitivity syndrome|Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
not provided|Partial androgen insensitivity syndrome|Androgen resistance syndrome
rs2147497386
rs2147497386
ClinVar: pathogenic (2★) — Kennedy disease|Androgen resistance syndrome|not provided|Partial androgen insensitivity syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome|not provided|Partial androgen insensitivity syndrome
rs2147497386
rs2147497386
ClinVar: pathogenic (2★) — Kennedy disease|Androgen resistance syndrome|not provided|Partial androgen insensitivity syndrome | genotype: homozygous (two copies)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome|not provided|Partial androgen insensitivity syndrome
null
ga4gh:VA.aSAVEvjcXOn50jmZVHi3POX_jzRwuvx0
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome
null
ga4gh:VA.aSAVEvjcXOn50jmZVHi3POX_jzRwuvx0
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome
null
ga4gh:VA.5kPjEP4Lo-8m_I0r5DPpkBHMulDNDt6A
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome
null
ga4gh:VA.5kPjEP4Lo-8m_I0r5DPpkBHMulDNDt6A
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome
rs2519800627
rs2519800627
ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AR
not provided
rs2519800627
rs2519800627
ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AR
not provided
rs137852569
rs137852569
ClinVar: pathogenic (2★) — Kennedy disease|Androgen resistance syndrome|Disorder of sexual differentiation|not provided|Partial androgen insensitivity syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome|Disorder of sexual differentiation|not provided|Partial androgen insensitivity syndrome
rs137852569
rs137852569
ClinVar: pathogenic (2★) — Kennedy disease|Androgen resistance syndrome|Disorder of sexual differentiation|not provided|Partial androgen insensitivity syndrome | genotype: homozygous (two copies)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome|Disorder of sexual differentiation|not provided|Partial androgen insensitivity syndrome
rs878853033
rs878853033
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AR
not provided
rs878853033
rs878853033
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AR
not provided
rs1555990470
rs1555990470
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs1555990470
rs1555990470
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
null
ga4gh:VA.SHsDZQitvkBZmVz6czbYb6mDir3RUO_m
ClinVar: pathogenic (1★) — Differences in sex development | genotype: heterozygous (one copy)
null
cancer
AR
Differences in sex development
null
ga4gh:VA.SHsDZQitvkBZmVz6czbYb6mDir3RUO_m
ClinVar: pathogenic (1★) — Differences in sex development | genotype: homozygous (two copies)
null
cancer
AR
Differences in sex development
null
ga4gh:VA.pZF_06F4aOywcKPQTnUr_iwPZu-W-M50
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
null
ga4gh:VA.pZF_06F4aOywcKPQTnUr_iwPZu-W-M50
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs1266872442
rs1266872442
ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AR
not provided
rs1266872442
rs1266872442
ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AR
not provided
rs1555990478
rs1555990478
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs1555990478
rs1555990478
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs886041128
rs886041128
ClinVar: pathogenic (2★) — not provided|Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
not provided|Kennedy disease|Androgen resistance syndrome
rs886041128
rs886041128
ClinVar: pathogenic (2★) — not provided|Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
not provided|Kennedy disease|Androgen resistance syndrome
rs137852573
rs137852573
ClinVar: pathogenic (2★) — Kennedy disease|Androgen resistance syndrome|not provided|Partial androgen insensitivity syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome|not provided|Partial androgen insensitivity syndrome
rs137852573
rs137852573
ClinVar: pathogenic (2★) — Kennedy disease|Androgen resistance syndrome|not provided|Partial androgen insensitivity syndrome | genotype: homozygous (two copies)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome|not provided|Partial androgen insensitivity syndrome
null
ga4gh:VA.IEMwI12TtL-KSdyb4uhnwtPMwDDRWBbg
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome
null
ga4gh:VA.IEMwI12TtL-KSdyb4uhnwtPMwDDRWBbg
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome
rs2075964906
rs2075964906
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AR
not provided
rs2075964906
rs2075964906
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AR
not provided
rs2147497751
rs2147497751
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome
rs2147497751
rs2147497751
ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome
rs2519800864
rs2519800864
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs2519800864
rs2519800864
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs1555990485
rs1555990485
ClinVar: pathogenic (2★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs1555990485
rs1555990485
ClinVar: pathogenic (2★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs754201976
rs754201976
ClinVar: pathogenic (2★) — Kennedy disease|Androgen resistance syndrome|not provided|Partial androgen insensitivity syndrome | genotype: heterozygous (one copy)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome|not provided|Partial androgen insensitivity syndrome
rs754201976
rs754201976
ClinVar: pathogenic (2★) — Kennedy disease|Androgen resistance syndrome|not provided|Partial androgen insensitivity syndrome | genotype: homozygous (two copies)
null
cancer
AR
Kennedy disease|Androgen resistance syndrome|not provided|Partial androgen insensitivity syndrome
rs1555990488
rs1555990488
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs1555990488
rs1555990488
ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies)
null
cancer
AR
Androgen resistance syndrome|Kennedy disease
rs1218564193
rs1218564193
ClinVar: likely_pathogenic (1★) — Male infertility | genotype: heterozygous (one copy)
null
cancer
AR
Male infertility
rs1218564193
rs1218564193
ClinVar: likely_pathogenic (1★) — Male infertility | genotype: homozygous (two copies)
null
cancer
AR
Male infertility