IDH2, isocitrate dehydrogenase (NADP(+)) 2, 3418

N. diseases: 380; N. variants: 15
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.100 1.000 17 2011 2019
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.100 0.909 11 2011 2020
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.080 0.875 8 2013 2020
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		Neoplasms 0.060 1.000 6 2013 2017
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		Neoplasms 0.060 1.000 6 2013 2017
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.050 1.000 5 2014 2019
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.050 0.800 5 2013 2017
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.050 0.800 5 2013 2017
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		Neoplasms 0.040 1.000 4 2015 2020
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		Neoplasms 0.030 1.000 3 2013 2016
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.030 0.667 3 2015 2018
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		Neoplasms 0.030 1.000 3 2013 2016
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0280483
Disease: Adult Anaplastic Astrocytoma
Adult Anaplastic Astrocytoma 		Neoplasms 0.020 1.000 2 2016 2017
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.020 1.000 2 2015 2018
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C4551548
Disease: Grade III Childhood Astrocytoma
Grade III Childhood Astrocytoma 		Neoplasms 0.020 1.000 2 2016 2017
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2012 2015
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C3899676
Disease: Childhood Anaplastic Oligoastrocytoma
Childhood Anaplastic Oligoastrocytoma 		0.020 1.000 2 2015 2016
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0431108
Disease: Anaplastic Oligoastrocytoma
Anaplastic Oligoastrocytoma 		Neoplasms 0.020 1.000 2 2015 2016
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2012 2015
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0280785
Disease: Diffuse Astrocytoma
Diffuse Astrocytoma 		Neoplasms 0.020 1.000 2 2016 2018
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2011 2017
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		Neoplasms 0.020 0.500 2 2015 2018
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C1514422
Disease: Glioblastoma, IDH-Wildtype
Glioblastoma, IDH-Wildtype 		Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0280790
Disease: Adult Anaplastic Oligodendroglioma
Adult Anaplastic Oligodendroglioma 		Neoplasms 0.010 1.000 1 2016 2016