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conclusion
large_stringlengths
10
1.08k
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module
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10 values
gene
large_stringlengths
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12
phenotype
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1.02k
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13 values
rs879254226
rs879254226
ClinVar: pathogenic (2★) — not provided|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
not provided|Familial adenomatous polyposis 1
rs879254226
rs879254226
ClinVar: pathogenic (2★) — not provided|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
not provided|Familial adenomatous polyposis 1
rs1561604514
rs1561604514
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs1561604514
rs1561604514
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
null
ga4gh:VA.m2djkzREByyey-kSK-hAOpaCi2gX_Wxm
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome
null
ga4gh:VA.m2djkzREByyey-kSK-hAOpaCi2gX_Wxm
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome
null
5:112841643:A:AC
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome
null
5:112841643:A:AC
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs1131691142
rs1131691142
ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs1131691142
rs1131691142
ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs876660174
rs876660174
ClinVar: pathogenic (2★) — not provided|Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
not provided|Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome
rs876660174
rs876660174
ClinVar: pathogenic (2★) — not provided|Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
not provided|Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome
rs1554087174
rs1554087174
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs1554087174
rs1554087174
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533689343
rs2533689343
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533689343
rs2533689343
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs1766130383
rs1766130383
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs1766130383
rs1766130383
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs1580667434
rs1580667434
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs1580667434
rs1580667434
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs879254155
rs879254155
ClinVar: pathogenic (2★) — not provided|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
not provided|Familial adenomatous polyposis 1
rs879254155
rs879254155
ClinVar: pathogenic (2★) — not provided|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
not provided|Familial adenomatous polyposis 1
rs2533690743
rs2533690743
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533690743
rs2533690743
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs886039638
rs886039638
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|not provided | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1|not provided
rs886039638
rs886039638
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|not provided | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1|not provided
rs2149957064
rs2149957064
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs2149957064
rs2149957064
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs1561605138
rs1561605138
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs1561605138
rs1561605138
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs1561605162
rs1561605162
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs1561605162
rs1561605162
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs786203024
rs786203024
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs786203024
rs786203024
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs1561605385
rs1561605385
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs1561605385
rs1561605385
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs1561605464
rs1561605464
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs1561605464
rs1561605464
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533693991
rs2533693991
ClinVar: likely_pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome
rs2533693991
rs2533693991
ClinVar: likely_pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome
rs1561605508
rs1561605508
ClinVar: likely_pathogenic (2★) — not provided|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
not provided|Familial adenomatous polyposis 1
rs1561605508
rs1561605508
ClinVar: likely_pathogenic (2★) — not provided|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
not provided|Familial adenomatous polyposis 1
rs2533694210
rs2533694210
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533694210
rs2533694210
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2149958320
5:112841744:G:GA
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs2149958320
5:112841744:GA:G
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs2149958320
5:112841744:G:GA
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs2149958320
5:112841744:GA:G
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs1561605597
rs1561605597
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs1561605597
rs1561605597
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2149959261
rs2149959261
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Classic or attenuated familial adenomatous polyposis|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Classic or attenuated familial adenomatous polyposis|Familial adenomatous polyposis 1
rs2149959261
rs2149959261
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Classic or attenuated familial adenomatous polyposis|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Classic or attenuated familial adenomatous polyposis|Familial adenomatous polyposis 1
rs1580668673
rs1580668673
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs1580668673
rs1580668673
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533698639
rs2533698639
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533698639
rs2533698639
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533699518
rs2533699518
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533699518
rs2533699518
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2149960139
rs2149960139
ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
not provided|Hereditary cancer-predisposing syndrome
rs2149960139
rs2149960139
ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
not provided|Hereditary cancer-predisposing syndrome
rs2533699787
rs2533699787
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs2533699787
rs2533699787
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs2149960307
rs2149960307
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2149960307
rs2149960307
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533700332
rs2533700332
ClinVar: likely_pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533700332
rs2533700332
ClinVar: likely_pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
null
5:112841838:GAT:G
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
null
5:112841838:GAT:G
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs1064792978
rs1064792978
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs1064792978
rs1064792978
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs876660816
rs876660816
ClinVar: pathogenic (2★) — not provided|Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
not provided|Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome
rs876660816
rs876660816
ClinVar: pathogenic (2★) — not provided|Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
not provided|Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome
rs1554087314
rs1554087314
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1|not specified | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1|not specified
rs1554087314
rs1554087314
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1|not specified | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1|not specified
rs2149961425
rs2149961425
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs2149961425
rs2149961425
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs1561606344
ga4gh:VA.klvhbgFb5D5l7dSlb2t6eFdftEmaOEwU
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs1561606344
ga4gh:VA.klvhbgFb5D5l7dSlb2t6eFdftEmaOEwU
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs1561606344
ga4gh:VA.HyxsllZQdb19ki6CjHBsYTloD0DSgvR2
ClinVar: likely_pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs1561606344
ga4gh:VA.HyxsllZQdb19ki6CjHBsYTloD0DSgvR2
ClinVar: likely_pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
null
5:112841893:AT:A
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
null
5:112841893:AT:A
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
null
ga4gh:VA.EpkrE_2k3om8VQpltQ-xknS-ljz6A0F4
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome
null
ga4gh:VA.EpkrE_2k3om8VQpltQ-xknS-ljz6A0F4
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs2149961882
rs2149961882
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2149961882
rs2149961882
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2149962117
rs2149962117
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2149962117
rs2149962117
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533706782
rs2533706782
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs2533706782
rs2533706782
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs876659022
ga4gh:VA.c7o1VcV7PRk0XGN-CGrbESNhrG5RMypu
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs876659022
ga4gh:VA.c7o1VcV7PRk0XGN-CGrbESNhrG5RMypu
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs876659022
ga4gh:VA.8qRdQFSDnL1M77AobFEiRrO43A6Nn6Z1
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs876659022
ga4gh:VA.8qRdQFSDnL1M77AobFEiRrO43A6Nn6Z1
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome
null
5:112841938:T:TACATCAAGCTG
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome
null
5:112841938:T:TACATCAAGCTG
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs2533708604
rs2533708604
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs2533708604
rs2533708604
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs2533708938
rs2533708938
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533708938
rs2533708938
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1