rsid large_stringlengths 5 12 ⌀ | module large_stringclasses 9
values | gene large_stringlengths 0 18 ⌀ | phenotype large_stringlengths 0 1.02k ⌀ | category large_stringclasses 13
values |
|---|---|---|---|---|
rs2527341649 | cancer | CDC73 | Hereditary cancer-predisposing syndrome | |
null | cancer | CDC73 | Hyperparathyroidism 1 | |
rs1677132309 | cancer | CDC73 | Parathyroid carcinoma | |
rs2103178097 | cancer | CDC73 | Hereditary cancer-predisposing syndrome|Parathyroid carcinoma | |
null | cancer | CDC73 | Parathyroid carcinoma | |
null | cancer | CDC73 | Parathyroid carcinoma | |
rs2527440253 | cancer | CDC73 | Hereditary cancer-predisposing syndrome | |
rs2527440254 | cancer | CDC73 | Hereditary cancer-predisposing syndrome|Parathyroid carcinoma | |
null | cancer | CDC73 | Parathyroid carcinoma | |
rs1553288362 | cancer | CDC73 | Hereditary cancer-predisposing syndrome | |
rs2527455766 | cancer | CDC73 | Parathyroid carcinoma | |
rs2527455776 | cancer | CDC73 | Hereditary cancer-predisposing syndrome | |
rs2102038469 | cancer | CDC73 | Parathyroid carcinoma | |
rs2102038475 | cancer | CDC73 | Hereditary cancer-predisposing syndrome | |
rs771907995 | cancer | CDC73 | Parathyroid carcinoma | |
null | cancer | CDC73 | Hereditary cancer-predisposing syndrome | |
rs2527493724 | cancer | CDC73 | Parathyroid carcinoma | |
rs2102058252 | cancer | CDC73 | Hereditary cancer-predisposing syndrome | |
null | cancer | CDC73 | Parathyroid carcinoma | |
rs1677688362 | cancer | CDC73 | Hereditary cancer-predisposing syndrome|Parathyroid carcinoma|Hyperparathyroidism 2 with jaw tumors | |
rs2527493922 | cancer | CDC73 | Hereditary cancer-predisposing syndrome | |
rs2527493958 | cancer | CDC73 | Parathyroid carcinoma | |
null | cancer | CDC73 | Parathyroid carcinoma | |
rs1572215344 | cancer | CDC73 | Parathyroid carcinoma | |
null | cancer | CDC73 | Parathyroid carcinoma | |
null | cancer | CDC73 | Parathyroid carcinoma | |
rs2102058495 | cancer | CDC73 | Parathyroid carcinoma | |
rs2527500780 | cancer | CDC73 | Hereditary cancer-predisposing syndrome | |
rs2102061867 | cancer | CDC73 | Parathyroid carcinoma | |
rs2527500853 | cancer | CDC73 | Hereditary cancer-predisposing syndrome | |
rs1677757408 | cancer | CDC73 | not provided | |
rs2102061886 | cancer | CDC73 | Parathyroid carcinoma | |
rs1677757559 | cancer | CDC73 | Parathyroid carcinoma | |
rs2102061912 | cancer | CDC73 | Parathyroid carcinoma | |
rs1678016165 | cancer | CDC73 | Hereditary cancer-predisposing syndrome | |
rs2102735477 | cancer | H3-3A | not provided|not specified | |
rs2102735576 | cancer | H3-3A | Bryant-Li-Bhoj neurodevelopmental syndrome 1|not provided | |
null | cancer | H3-3A | H3-3A-related disorder|not provided|Bryant-Li-Bhoj neurodevelopmental syndrome 1 | |
rs1131691704 | cancer | H3-3A | not provided | |
rs1439403341 | cancer | H3-3A | not provided | |
rs2102735801 | cancer | H3-3A | Bryant-Li-Bhoj neurodevelopmental syndrome 1|Global developmental delay|Short stature|Delayed speech and language development|Intellectual disability|Brain imaging abnormality | |
rs1657901999 | cancer | H3-3A | Bryant-Li-Bhoj neurodevelopmental syndrome 1|Inborn genetic diseases | |
null | cancer | H3-3A | Bryant-Li-Bhoj neurodevelopmental syndrome 1 | |
rs2102736976 | cancer | H3-3A | Global developmental delay|Short stature|Delayed speech and language development|Intellectual disability|Brain imaging abnormality | |
rs1657903750 | cancer | H3-3A | Bryant-Li-Bhoj neurodevelopmental syndrome 1|H3-3A-related disorder|Inborn genetic diseases | |
rs1657904113 | cancer | H3-3A | Neurodevelopmental disorder|Bryant-Li-Bhoj neurodevelopmental syndrome 1 | |
rs1658118461 | cancer | H3-3A | Bryant-Li-Bhoj neurodevelopmental syndrome 1|not specified | |
null | cancer | H3-3A | not provided | |
rs2102742543 | cancer | H3-3A | not provided | |
null | cancer | H3-3A | Bryant-Li-Bhoj neurodevelopmental syndrome 1 | |
null | cancer | H3-3A | Bryant-Li-Bhoj neurodevelopmental syndrome 1 | |
rs2102742562 | cancer | H3-3A | not provided|Bryant-Li-Bhoj neurodevelopmental syndrome 1|Global developmental delay|Short stature|Delayed speech and language development|Intellectual disability|Brain imaging abnormality | |
rs1576203003 | cancer | H3-3A | H3F3A-related disorder|Inborn genetic diseases | |
rs1276519904 | cancer | H3-3A | Inborn genetic diseases|H3F3A-related disorder|Bryant-Li-Bhoj neurodevelopmental syndrome 1|not provided | |
rs1658121882 | cancer | H3-3A | Bryant-Li-Bhoj neurodevelopmental syndrome 1|Global developmental delay|Short stature|Delayed speech and language development|Intellectual disability|Brain imaging abnormality | |
rs2527308315 | cancer | FH | Hereditary cancer-predisposing syndrome | |
rs1425094515 | cancer | FH | not provided | |
null | cancer | FH | not provided | |
null | cancer | FH | Hereditary leiomyomatosis and renal cell cancer | |
null | cancer | FH | not provided | |
rs886039368 | cancer | FH | Hereditary cancer-predisposing syndrome|not provided|Hereditary leiomyomatosis and renal cell cancer | |
rs2147911203 | cancer | FH | not provided | |
rs1659662318 | cancer | FH | not provided | |
rs750838853 | cancer | FH | not provided | |
null | cancer | FH | Hereditary cancer-predisposing syndrome | |
rs1060500907 | cancer | FH | not provided | |
rs1553340506 | cancer | FH | not provided | |
rs2527308382 | cancer | FH | Fumarase deficiency | |
rs2527308386 | cancer | FH | Hereditary cancer-predisposing syndrome | |
null | cancer | FH | Hereditary cancer-predisposing syndrome | |
rs2147911225 | cancer | FH | Hereditary cancer-predisposing syndrome|not provided|Hereditary leiomyomatosis and renal cell cancer | |
rs2527308398 | cancer | FH | Hereditary leiomyomatosis and renal cell cancer | |
rs886041201 | cancer | FH | Hereditary cancer-predisposing syndrome|not provided|Fumarase deficiency|Hereditary leiomyomatosis and renal cell cancer | |
null | cancer | FH | not provided | |
null | cancer | FH | Hereditary cancer-predisposing syndrome | |
rs1060499645 | cancer | FH | Hereditary cancer-predisposing syndrome|not provided|Hereditary leiomyomatosis and renal cell cancer | |
rs2527308441 | cancer | FH | not provided | |
null | cancer | FH | not provided | |
rs2147911268 | cancer | FH | not provided | |
rs2147911265 | cancer | FH | not provided | |
null | cancer | FH | not provided | |
rs2527308465 | cancer | FH | not provided|Hereditary cancer-predisposing syndrome | |
rs398123165 | cancer | FH | not provided | |
rs1064796708 | cancer | FH | Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency|not provided | |
rs2527308484 | cancer | FH | not provided | |
rs1131691245 | cancer | FH | not provided|Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer | |
rs863223994 | cancer | FH | not provided | |
rs1573876584 | cancer | FH | Hereditary cancer-predisposing syndrome|not provided|Fumarase deficiency | |
rs2527308519 | cancer | FH | Hereditary leiomyomatosis and renal cell cancer | |
null | cancer | FH | Fumarase deficiency | |
rs2527308607 | cancer | FH | Hereditary cancer-predisposing syndrome | |
rs863223993 | cancer | FH | not provided|Hereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome | |
rs863224010 | cancer | FH | Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer|not provided | |
rs2147911365 | cancer | FH | not provided|Hereditary cancer-predisposing syndrome | |
rs2147911367 | cancer | FH | Hereditary cancer-predisposing syndrome|not provided | |
rs863223978 | cancer | FH | Hereditary cancer-predisposing syndrome|Fumarase deficiency | |
rs1064795320 | cancer | FH | not provided|Hereditary leiomyomatosis and renal cell cancer | |
rs863224008 | cancer | FH | Hereditary cancer-predisposing syndrome|not provided|Fumarase deficiency | |
rs2147911550 | cancer | FH | not provided|Hereditary cancer-predisposing syndrome | |
null | cancer | FH | not provided |
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