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
null
cancer
MUTYH
Familial adenomatous polyposis 2
null
cancer
MUTYH
Familial adenomatous polyposis 2
rs587780088
cancer
MUTYH
not provided|Familial adenomatous polyposis 2|Gastric cancer|Pilomatrixoma|Neoplasm of stomach|Hereditary cancer-predisposing syndrome|Carcinoma of colon
rs1570467133
cancer
MUTYH
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 2
null
cancer
MUTYH
Hereditary cancer-predisposing syndrome
rs1383826978
cancer
MUTYH
Familial adenomatous polyposis 2
rs2524697578
cancer
MUTYH
Gastric cancer
rs1553136984
cancer
MUTYH
Familial adenomatous polyposis 2
rs767402084
cancer
MUTYH
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 2
null
cancer
MUTYH
Familial adenomatous polyposis 2
rs1064795596
cancer
MUTYH
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 2
rs2524698721
cancer
MUTYH
Familial adenomatous polyposis 2
null
cancer
MUTYH
not provided
rs121908688
cancer
RAD54L
Colon adenocarcinoma
null
cancer
RAD54L
Lymphoma, non-Hodgkin, familial
rs121908690
cancer
RAD54L
Breast ductal adenocarcinoma
rs797044888
cancer
RAD54L
Inborn genetic diseases
rs776226854
cancer
RAD54L
Familial cancer of breast
rs121908689
cancer
RAD54L
Non-Hodgkin lymphoma
rs374567435
cancer
RAD54L
Polymorphous low grade neuroepithelial tumor of the young|Inborn genetic diseases
rs1660658865
cancer
RAD54L
Premature ovarian failure
rs368491231
cancer
RAD54L
Premature ovarian failure
rs746646631
cancer
CDKN2C
Multiple myeloma
rs2524557470
cancer
JUN
Breast neoplasm
rs1655079234
cancer
JAK1
Acute megakaryoblastic leukemia in down syndrome
rs1655173102
cancer
JAK1
Autoinflammation, immune dysregulation, and eosinophilia
rs869312953
cancer
JAK1
Autoinflammation, immune dysregulation, and eosinophilia|Inborn genetic diseases
rs2524099521
cancer
JAK1
Autoinflammation, immune dysregulation, and eosinophilia
null
cancer
MSH4
Premature ovarian failure 20|Spermatogenic failure 2
rs2100513927
cancer
MSH4
Spermatogenic failure 2
rs777079867
cancer
MSH4
Genetic non-acquired premature ovarian failure
rs116141807
cancer
MSH4
Genetic non-acquired premature ovarian failure
rs1651856824
cancer
MSH4
Non-obstructive azoospermia
rs2100570734
cancer
MSH4
Spermatogenic failure 2
rs751781089
cancer
MSH4
Non-obstructive azoospermia
rs1430228393
cancer
MSH4
Genetic non-acquired premature ovarian failure
rs149910287
cancer
MSH4
Spermatogenic failure 2
rs2100581757
cancer
MSH4
Spermatogenic failure 2
rs149042353
cancer
MSH4
Spermatogenic failure 2|Premature ovarian failure 20|Non-obstructive azoospermia
rs1386320504
cancer
MSH4
Genetic non-acquired premature ovarian failure|Spermatogenic failure 2
rs377712900
cancer
MSH4
Spermatogenic failure 2|Premature ovarian failure 20|Oligospermia|Non-obstructive azoospermia|Premature ovarian insufficiency
rs774501542
cancer
MSH4
Premature ovarian failure 20
rs557796016
cancer
MSH4
Genetic non-acquired premature ovarian failure
null
cancer
MSH4
Premature ovarian failure 20|Spermatogenic failure 2
rs771456188
cancer
MSH4
Genetic non-acquired premature ovarian failure
rs2101738598
cancer
NRAS
Noonan syndrome 6
rs2526451293
cancer
NRAS
Noonan syndrome
rs2526451323
cancer
NRAS
Pyogenic granuloma
rs11554290
cancer
NRAS
Vascular malformation|Colorectal cancer|Large congenital melanocytic nevus|Neurocutaneous melanocytosis|not provided|Linear nevus sebaceous syndrome|Epidermal nevus|Noonan syndrome 6|Non-small cell lung carcinoma|Thyroid cancer, nonmedullary, 2
rs267606920
cancer
NRAS
NRAS-related disorder|Cardiovascular phenotype|not provided|RASopathy|Noonan syndrome 6|Noonan syndrome 1
rs1557982817
cancer
NRAS
not provided
rs1570874751
cancer
NRAS
Anemia|Noonan syndrome
rs730880965
cancer
NRAS
Cardiovascular phenotype|not provided|Noonan syndrome 6
rs2101742052
cancer
NRAS
not provided|RASopathy|Colorectal cancer|Noonan syndrome|Noonan syndrome 1|Noonan syndrome and Noonan-related syndrome
rs267606921
cancer
NRAS
not provided|RASopathy|Noonan syndrome|Noonan syndrome 1|Noonan syndrome 6
null
cancer
NRAS
RASopathy
rs730880967
cancer
NRAS
RASopathy
rs2101743991
cancer
NRAS
Noonan syndrome 6
rs397514553
cancer
NRAS
Epidermal nevus|Noonan syndrome 1
rs869025573
cancer
NRAS
not provided|RASopathy|Noonan syndrome 1
rs121434596
cancer
NRAS
Cardiovascular phenotype|Noonan syndrome 6
rs121434595
cancer
NRAS
Large congenital melanocytic nevus|not provided|Linear nevus sebaceous syndrome|Acute myeloid leukemia|Noonan syndrome 6|Carcinoma of colon
rs121913237
cancer
NRAS
Colorectal cancer|not provided|RASopathy|Noonan syndrome|Autoimmune lymphoproliferative syndrome type 4
rs2101744255
cancer
NRAS
NRAS-related disorder
rs121913250
cancer
NRAS
not provided|Chronic myeloid leukemia
rs1325403451
cancer
NOTCH2
Paediatric disorders|not provided|Hajdu-Cheney syndrome|Alagille syndrome due to a NOTCH2 point mutation
rs387906749
cancer
NOTCH2
Hajdu-Cheney syndrome
rs1557801639
cancer
NOTCH2
Hajdu-Cheney syndrome
rs2101141863
cancer
NOTCH2
Hajdu-Cheney syndrome
rs1649037695
cancer
NOTCH2
Hajdu-Cheney syndrome
rs2526103665
cancer
NOTCH2
NOTCH2-related disorder
rs1553193485
cancer
NOTCH2
Hajdu-Cheney syndrome
null
cancer
NOTCH2
Hajdu-Cheney syndrome
rs2101142159
cancer
NOTCH2
Hajdu-Cheney syndrome
rs2526104121
cancer
NOTCH2
not provided
null
cancer
NOTCH2
Hajdu-Cheney syndrome
rs387906747
cancer
NOTCH2
Hajdu-Cheney syndrome
rs1570654979
cancer
NOTCH2
Hajdu-Cheney syndrome
rs2101142622
cancer
NOTCH2
Hajdu-Cheney syndrome
rs771237928
cancer
NOTCH2
not provided|Hajdu-Cheney syndrome|Monoclonal B-Cell Lymphocytosis
rs387906748
cancer
NOTCH2
Hajdu-Cheney syndrome
rs1649047546
cancer
NOTCH2
Hajdu-Cheney syndrome
rs1553193507
cancer
NOTCH2
Hajdu-Cheney syndrome
rs2101142928
cancer
NOTCH2
Hajdu-Cheney syndrome
rs886041862
cancer
NOTCH2
not provided|Hajdu-Cheney syndrome
null
cancer
NOTCH2
Hajdu-Cheney syndrome
rs1553193524
cancer
NOTCH2
not provided
rs2526105966
cancer
NOTCH2
Hajdu-Cheney syndrome
rs886041979
cancer
NOTCH2
not provided
null
cancer
NOTCH2
Hajdu-Cheney syndrome
null
cancer
NOTCH2
Alagille syndrome due to a NOTCH2 point mutation|Hajdu-Cheney syndrome
rs387906746
cancer
NOTCH2
Hajdu-Cheney syndrome
rs2101143618
cancer
NOTCH2
Alagille syndrome due to a NOTCH2 point mutation|Hajdu-Cheney syndrome
rs1557802165
cancer
NOTCH2
Hajdu-Cheney syndrome
rs1570655570
cancer
NOTCH2
Alagille syndrome due to a NOTCH2 point mutation
rs2101144082
cancer
NOTCH2
Alagille syndrome due to a NOTCH2 point mutation|Hajdu-Cheney syndrome|See cases
rs1553193574
cancer
NOTCH2
Hajdu-Cheney syndrome
rs1649066485
cancer
NOTCH2
Hajdu-Cheney syndrome
rs1649067817
cancer
NOTCH2
NOTCH2-related disorder|not provided|Hajdu-Cheney syndrome
rs2526107620
cancer
NOTCH2
Hajdu-Cheney syndrome