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: rs121913502
rs121913502 		0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.020 1.000 2 2015 2017
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: C0280790
Disease: Adult Anaplastic Oligodendroglioma
Adult Anaplastic Oligodendroglioma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C0280790
Disease: Adult Anaplastic Oligodendroglioma
Adult Anaplastic Oligodendroglioma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs121913502
rs121913502 		0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		0.020 1.000 2 2015 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: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1353428252
rs1353428252 		0.851 0.120 15 90088681 missense variant A/C snv 8.0E-06
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
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: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
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: 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: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs749395621
rs749395621 		0.925 0.040 15 90087536 missense variant T/C;G snv 4.0E-06; 3.6E-05
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1353428252
rs1353428252 		0.851 0.120 15 90088681 missense variant A/C snv 8.0E-06
CUI: C0020981
Disease: Angioimmunoblastic Lymphadenopathy
Angioimmunoblastic Lymphadenopathy 		Immune System Diseases; Hemic and Lymphatic Diseases 0.060 1.000 6 2014 2019
dbSNP: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C0020981
Disease: Angioimmunoblastic Lymphadenopathy
Angioimmunoblastic Lymphadenopathy 		Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2016 2017
dbSNP: rs1057519736
rs1057519736 		0.752 0.160 15 90088605 missense variant C/G snv
CUI: C0020981
Disease: Angioimmunoblastic Lymphadenopathy
Angioimmunoblastic Lymphadenopathy 		Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
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: C1859598
Disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015
dbSNP: rs121913502
rs121913502 		0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C1301363
Disease: Blastic plasmacytoid dendritic cell neoplasm
Blastic plasmacytoid dendritic cell neoplasm 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
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: rs1057519906
rs1057519906 		0.882 0.120 15 90088607 missense variant T/A;C snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016