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 |
|---|---|---|---|---|---|---|---|
rs2132956266 | rs2132956266 | ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome | |
rs2132956266 | rs2132956266 | ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome | |
rs1830947813 | rs1830947813 | ClinVar: likely_pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome | |
rs1830947813 | rs1830947813 | ClinVar: likely_pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome | |
rs1060499547 | rs1060499547 | ClinVar: pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome|not provided|Failure to thrive|Congenital heart disease|Abnormal skeletal morphology | genotype: heterozygous (one copy) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome|not provided|Failure to thrive|Congenital heart disease|Abnormal skeletal morphology | |
rs1060499547 | rs1060499547 | ClinVar: pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome|not provided|Failure to thrive|Congenital heart disease|Abnormal skeletal morphology | genotype: homozygous (two copies) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome|not provided|Failure to thrive|Congenital heart disease|Abnormal skeletal morphology | |
rs1831097846 | rs1831097846 | ClinVar: likely_pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome|not provided | |
rs1831097846 | rs1831097846 | ClinVar: likely_pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome|not provided | |
rs121913456 | rs121913456 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ABL1 | not provided | |
rs121913456 | rs121913456 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ABL1 | not provided | |
rs1831099962 | rs1831099962 | ClinVar: pathogenic (2★) — ABL1-related disorder|Congenital heart defects and skeletal malformations syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ABL1 | ABL1-related disorder|Congenital heart defects and skeletal malformations syndrome|not provided | |
rs1831099962 | rs1831099962 | ClinVar: pathogenic (2★) — ABL1-related disorder|Congenital heart defects and skeletal malformations syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ABL1 | ABL1-related disorder|Congenital heart defects and skeletal malformations syndrome|not provided | |
rs2490715483 | rs2490715483 | ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome | |
rs2490715483 | rs2490715483 | ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome | |
rs121913459 | rs121913459 | ClinVar: likely_pathogenic (2★) — Chronic myeloid leukemia|Leukemia, Philadelphia chromosome-positive, resistant to imatinib | genotype: heterozygous (one copy) | null | cancer | ABL1 | Chronic myeloid leukemia|Leukemia, Philadelphia chromosome-positive, resistant to imatinib | |
rs121913459 | rs121913459 | ClinVar: likely_pathogenic (2★) — Chronic myeloid leukemia|Leukemia, Philadelphia chromosome-positive, resistant to imatinib | genotype: homozygous (two copies) | null | cancer | ABL1 | Chronic myeloid leukemia|Leukemia, Philadelphia chromosome-positive, resistant to imatinib | |
rs1060499548 | rs1060499548 | ClinVar: pathogenic (2★) — Congenital heart disease|Abnormal skeletal morphology|Failure to thrive|not provided|Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy) | null | cancer | ABL1 | Congenital heart disease|Abnormal skeletal morphology|Failure to thrive|not provided|Congenital heart defects and skeletal malformations syndrome | |
rs1060499548 | rs1060499548 | ClinVar: pathogenic (2★) — Congenital heart disease|Abnormal skeletal morphology|Failure to thrive|not provided|Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies) | null | cancer | ABL1 | Congenital heart disease|Abnormal skeletal morphology|Failure to thrive|not provided|Congenital heart defects and skeletal malformations syndrome | |
null | ga4gh:VA.MjX7fwdd3_C_fBFYG89RSlDd3e8aCA2I | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ABL1 | not provided | |
null | ga4gh:VA.MjX7fwdd3_C_fBFYG89RSlDd3e8aCA2I | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ABL1 | not provided | |
rs2490721921 | rs2490721921 | ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome | |
rs2490721921 | rs2490721921 | ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome | |
rs1831388695 | rs1831388695 | ClinVar: likely_pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome|not provided | |
rs1831388695 | rs1831388695 | ClinVar: likely_pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome|not provided | |
rs2133017541 | rs2133017541 | ClinVar: pathogenic (1★) — not provided|Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy) | null | cancer | ABL1 | not provided|Congenital heart defects and skeletal malformations syndrome | |
rs2133017541 | rs2133017541 | ClinVar: pathogenic (1★) — not provided|Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies) | null | cancer | ABL1 | not provided|Congenital heart defects and skeletal malformations syndrome | |
rs2133022634 | rs2133022634 | ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome | |
rs2133022634 | rs2133022634 | ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome | |
rs1831432715 | rs1831432715 | ClinVar: pathogenic (2★) — not provided|Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy) | null | cancer | ABL1 | not provided|Congenital heart defects and skeletal malformations syndrome | |
rs1831432715 | rs1831432715 | ClinVar: pathogenic (2★) — not provided|Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies) | null | cancer | ABL1 | not provided|Congenital heart defects and skeletal malformations syndrome | |
rs1831432776 | rs1831432776 | ClinVar: pathogenic (2★) — Microcephaly|Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy) | null | cancer | ABL1 | Microcephaly|Congenital heart defects and skeletal malformations syndrome | |
rs1831432776 | rs1831432776 | ClinVar: pathogenic (2★) — Microcephaly|Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies) | null | cancer | ABL1 | Microcephaly|Congenital heart defects and skeletal malformations syndrome | |
rs1831433011 | rs1831433011 | ClinVar: pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome|not provided | |
rs1831433011 | rs1831433011 | ClinVar: pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome|not provided | |
rs1355021408 | rs1355021408 | ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome | |
rs1355021408 | rs1355021408 | ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies) | null | cancer | ABL1 | Congenital heart defects and skeletal malformations syndrome | |
null | 11:67483152:AAGG:A | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
null | 11:67483152:AAGG:A | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.8FH_z6ZR6T6nTVt143vXfsxZi1hMbAKK | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.8FH_z6ZR6T6nTVt143vXfsxZi1hMbAKK | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.uO8sBnBbpV05py1bECmMEycNFpwKn7SL | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
null | ga4gh:VA.uO8sBnBbpV05py1bECmMEycNFpwKn7SL | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
rs886037871 | rs886037871 | ClinVar: likely_pathogenic (1★) — Familial isolated pituitary adenoma | genotype: heterozygous (one copy) | null | cancer | AIP | Familial isolated pituitary adenoma | |
rs886037871 | rs886037871 | ClinVar: likely_pathogenic (1★) — Familial isolated pituitary adenoma | genotype: homozygous (two copies) | null | cancer | AIP | Familial isolated pituitary adenoma | |
rs104894194 | rs104894194 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Pituitary adenoma predisposition|Somatotroph adenoma | genotype: heterozygous (one copy) | null | cancer | AIP | Hereditary cancer-predisposing syndrome|not provided|Pituitary adenoma predisposition|Somatotroph adenoma | |
rs104894194 | rs104894194 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Pituitary adenoma predisposition|Somatotroph adenoma | genotype: homozygous (two copies) | null | cancer | AIP | Hereditary cancer-predisposing syndrome|not provided|Pituitary adenoma predisposition|Somatotroph adenoma | |
rs2495387711 | rs2495387711 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AIP | not provided | |
rs2495387711 | rs2495387711 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AIP | not provided | |
null | 11:67483203:AC:A | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AIP | not provided | |
null | 11:67483203:AC:A | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AIP | not provided | |
rs267606568 | rs267606568 | ClinVar: pathogenic (1★) — not provided|Somatotroph adenoma | genotype: heterozygous (one copy) | null | cancer | AIP | not provided|Somatotroph adenoma | |
rs267606568 | rs267606568 | ClinVar: pathogenic (1★) — not provided|Somatotroph adenoma | genotype: homozygous (two copies) | null | cancer | AIP | not provided|Somatotroph adenoma | |
rs969013352 | rs969013352 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AIP | not provided | |
rs969013352 | rs969013352 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AIP | not provided | |
null | ga4gh:VA.v7ixKkTVtwW3fMcHLd1V7Ifmn2BpFPCr | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AIP | not provided | |
null | ga4gh:VA.v7ixKkTVtwW3fMcHLd1V7Ifmn2BpFPCr | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AIP | not provided | |
null | ga4gh:VA.CQ2Up7Nwn8zPo7ee3-pKjWDBNE1p7pfu | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AIP | not provided | |
null | ga4gh:VA.CQ2Up7Nwn8zPo7ee3-pKjWDBNE1p7pfu | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AIP | not provided | |
null | 11:67487007:C:CCGTG | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AIP | not provided | |
null | 11:67487007:C:CCGTG | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AIP | not provided | |
null | 11:67487011:GT:G | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AIP | not provided | |
null | 11:67487011:GT:G | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AIP | not provided | |
null | 11:67487104:G:GA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
null | 11:67487104:G:GA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
rs1591042753 | rs1591042753 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
rs1591042753 | rs1591042753 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
rs987431392 | rs987431392 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
rs987431392 | rs987431392 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
null | 11:67487129:A:AC | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
null | 11:67487129:A:AC | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
rs267606541 | rs267606541 | ClinVar: pathogenic (2★) — Somatotroph adenoma|Hereditary cancer-predisposing syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | AIP | Somatotroph adenoma|Hereditary cancer-predisposing syndrome|not provided | |
rs267606541 | rs267606541 | ClinVar: pathogenic (2★) — Somatotroph adenoma|Hereditary cancer-predisposing syndrome|not provided | genotype: homozygous (two copies) | null | cancer | AIP | Somatotroph adenoma|Hereditary cancer-predisposing syndrome|not provided | |
rs2495396380 | rs2495396380 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AIP | not provided | |
rs2495396380 | rs2495396380 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AIP | not provided | |
rs2134251305 | rs2134251305 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AIP | not provided | |
rs2134251305 | rs2134251305 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AIP | not provided | |
rs1865848848 | rs1865848848 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AIP | not provided | |
rs1865848848 | rs1865848848 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AIP | not provided | |
rs2495401581 | rs2495401581 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
rs2495401581 | rs2495401581 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
rs2134253352 | rs2134253352 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AIP | not provided | |
rs2134253352 | rs2134253352 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AIP | not provided | |
rs1159928352 | rs1159928352 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
rs1159928352 | rs1159928352 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
rs2495401766 | rs2495401766 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
rs2495401766 | rs2495401766 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
rs1459480763 | rs1459480763 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | AIP | Hereditary cancer-predisposing syndrome|not provided | |
rs1459480763 | rs1459480763 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided | genotype: homozygous (two copies) | null | cancer | AIP | Hereditary cancer-predisposing syndrome|not provided | |
rs267606552 | rs267606552 | ClinVar: pathogenic (1★) — Somatotroph adenoma|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AIP | Somatotroph adenoma|Hereditary cancer-predisposing syndrome | |
rs267606552 | rs267606552 | ClinVar: pathogenic (1★) — Somatotroph adenoma|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AIP | Somatotroph adenoma|Hereditary cancer-predisposing syndrome | |
rs750938556 | rs750938556 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AIP | not provided | |
rs750938556 | rs750938556 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AIP | not provided | |
null | 11:67489416:GAA:G | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
null | 11:67489416:GAA:G | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AIP | Hereditary cancer-predisposing syndrome | |
rs104895073 | rs104895073 | ClinVar: pathogenic (1★) — Somatotroph adenoma|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AIP | Somatotroph adenoma|Hereditary cancer-predisposing syndrome | |
rs104895073 | rs104895073 | ClinVar: pathogenic (1★) — Somatotroph adenoma|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AIP | Somatotroph adenoma|Hereditary cancer-predisposing syndrome | |
rs2495405101 | rs2495405101 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AIP | not provided | |
rs2495405101 | rs2495405101 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AIP | not provided | |
rs2495405147 | rs2495405147 | ClinVar: pathogenic (2★) — not provided|Somatotroph adenoma | genotype: heterozygous (one copy) | null | cancer | AIP | not provided|Somatotroph adenoma | |
rs2495405147 | rs2495405147 | ClinVar: pathogenic (2★) — not provided|Somatotroph adenoma | genotype: homozygous (two copies) | null | cancer | AIP | not provided|Somatotroph adenoma |
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