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9 values
gene
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phenotype
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1.02k
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large_stringclasses
13 values
rs863223983
cancer
FH
Hereditary cancer-predisposing syndrome|not provided
null
cancer
FH
Hereditary cancer-predisposing syndrome
rs1573885482
cancer
FH
Hereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome|not provided
rs1660100641
cancer
FH
not provided
rs1573885503
cancer
FH
Hereditary cancer-predisposing syndrome|not provided
rs1355199594
cancer
FH
Hereditary cancer-predisposing syndrome|not provided
rs2527332795
cancer
FH
Hereditary cancer-predisposing syndrome
rs2147921966
cancer
FH
not provided
rs2527332800
cancer
FH
not provided
rs1573885519
cancer
FH
not provided
rs2527332814
cancer
FH
Hereditary leiomyomatosis and renal cell cancer
rs786202833
cancer
FH
Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer|not provided
rs863223995
cancer
FH
Hereditary cancer-predisposing syndrome|not provided|Hereditary leiomyomatosis and renal cell cancer
rs1060499631
cancer
FH
Hereditary leiomyomatosis and renal cell cancer
rs1660103724
cancer
FH
Hereditary cancer-predisposing syndrome
rs2527332897
cancer
FH
Hereditary cancer-predisposing syndrome
rs1553341623
cancer
FH
Fumarase deficiency|not provided|Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer
null
cancer
FH
Hereditary cancer-predisposing syndrome|not provided
rs1131691240
cancer
FH
not provided|Hereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome
rs1131691241
cancer
FH
Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer
rs1660143675
cancer
FH
Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency|not provided
rs1573886367
cancer
FH
Hereditary cancer-predisposing syndrome
rs1417243893
cancer
FH
Hereditary cancer-predisposing syndrome
rs1660143834
cancer
FH
not provided
rs1558401064
cancer
FH
Hereditary cancer-predisposing syndrome|not provided|Hereditary leiomyomatosis and renal cell cancer
rs886039363
cancer
FH
Hereditary cancer-predisposing syndrome|not provided|Hereditary leiomyomatosis and renal cell cancer
rs1573886415
cancer
FH
not provided
rs2527335176
cancer
FH
Fumarase deficiency
rs1060499630
cancer
FH
Cutaneous leiomyoma|Uterine leiomyoma|not provided|Fumarase deficiency|Hereditary leiomyomatosis and renal cell cancer
rs2527335211
cancer
FH
not provided
rs121913121
cancer
FH
Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency|not provided
rs1558401094
cancer
FH
Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer|not provided
rs2527335224
cancer
FH
not provided|Hereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome
rs876658569
cancer
FH
Hereditary cancer-predisposing syndrome|not provided
rs2527335251
cancer
FH
not provided
rs863224017
cancer
FH
Hereditary cancer-predisposing syndrome|not provided
rs121913120
cancer
FH
Hereditary cancer-predisposing syndrome|not provided|Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency
rs2147923081
cancer
FH
not provided
rs1660148115
cancer
FH
Hereditary cancer-predisposing syndrome
rs1573886490
cancer
FH
Hereditary cancer-predisposing syndrome
rs2527335338
cancer
FH
Hereditary cancer-predisposing syndrome|not provided
null
cancer
FH
Hereditary leiomyomatosis and renal cell cancer
null
cancer
FH
Hereditary leiomyomatosis and renal cell cancer
rs2147923117
cancer
FH
not provided
rs1060499629
cancer
FH
Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer|not provided
null
cancer
FH
Hereditary leiomyomatosis and renal cell cancer
null
cancer
FH
not provided
rs878853691
cancer
FH
not provided
rs2527340114
cancer
FH
not provided
rs763390436
cancer
FH
Cutaneous leiomyoma|not provided
rs2527340172
cancer
FH
not provided
rs1573888356
cancer
FH
Hereditary cancer-predisposing syndrome
rs1553341942
cancer
FH
Fumarase deficiency|Hereditary cancer-predisposing syndrome|not provided|Hereditary leiomyomatosis and renal cell cancer
rs1553341945
cancer
FH
Hereditary cancer-predisposing syndrome|not provided
rs2527340210
cancer
FH
Hereditary leiomyomatosis and renal cell cancer
null
cancer
FH
Fumarase deficiency
rs1660242061
cancer
FH
Hereditary leiomyomatosis and renal cell cancer
rs1553341951
cancer
FH
not provided
rs2147925168
cancer
FH
Hereditary cancer-predisposing syndrome
null
cancer
FH
Hereditary cancer-predisposing syndrome
rs886039362
cancer
FH
Hereditary cancer-predisposing syndrome|not provided|Fumarase deficiency
rs2527340288
cancer
FH
Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer
rs1060500883
cancer
FH
Hereditary cancer-predisposing syndrome|not provided
rs1558402241
cancer
FH
Hereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome|not provided
rs2527340320
cancer
FH
Hereditary cancer-predisposing syndrome
rs1660243497
cancer
FH
not provided|Hereditary cancer-predisposing syndrome
null
cancer
FH
Hereditary cancer-predisposing syndrome
rs1558402255
cancer
FH
not provided
null
cancer
FH
not provided
rs1131691246
cancer
FH
Hereditary cancer-predisposing syndrome|not provided
rs1573888513
cancer
FH
Hereditary cancer-predisposing syndrome|not provided
null
cancer
FH
Hereditary cancer-predisposing syndrome
rs863224013
cancer
FH
not provided|Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer
rs976734433
cancer
FH
not provided|Hereditary cancer-predisposing syndrome|Fumarase deficiency
rs1573888556
cancer
FH
Hereditary cancer-predisposing syndrome|not provided
rs863223980
cancer
FH
Hereditary cancer-predisposing syndrome|not provided|Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency
rs1131691237
cancer
FH
Hereditary cancer-predisposing syndrome
rs863224011
cancer
FH
Hereditary leiomyomatosis and renal cell cancer
rs2527344866
cancer
FH
Hereditary cancer-predisposing syndrome
null
cancer
FH
Hereditary cancer-predisposing syndrome
rs863223982
cancer
FH
Hereditary cancer-predisposing syndrome|not provided
rs2147926843
cancer
FH
not provided
rs2147926875
cancer
FH
not provided
rs2147926893
cancer
FH
not provided
rs1553342155
cancer
FH
not provided
rs2147926966
cancer
FH
not provided
rs2527345537
cancer
FH
Fumarase deficiency
rs1060500900
cancer
FH
Fumarase deficiency|Hereditary leiomyomatosis and renal cell cancer|not provided
rs1226883651
cancer
FH
Fumarase deficiency|not provided
rs2147927054
cancer
FH
not provided
rs1573890070
cancer
FH
not provided
rs564147469
cancer
FH
not provided
rs587776935
cancer
AKT3
AKT3-related disorder|Macrocephaly|Polymicrogyria|Global developmental delay|Capillary hemangioma|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2|Inborn genetic diseases|not provided|See cases
rs1064795602
cancer
AKT3
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
rs1673171921
cancer
AKT3
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
null
cancer
AKT3
not provided
rs397514605
cancer
AKT3
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2|Megalencephaly-capillary malformation-polymicrogyria syndrome
rs886041100
cancer
AKT3
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
rs2147812145
cancer
AKT3
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
rs1085307712
cancer
AKT3
not provided