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: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519906
rs1057519906 		0.882 0.120 15 90088607 missense variant T/A;C snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1057519736
rs1057519736 		0.752 0.160 15 90088605 missense variant C/G snv
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs11540478
rs11540478 		0.851 0.080 15 90085305 synonymous variant G/A;C snv 3.5E-02; 6.4E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2017 2018
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2016 2016
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: C1332943
Disease: Childhood Anaplastic Oligodendroglioma
Childhood 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: C1332943
Disease: Childhood Anaplastic Oligodendroglioma
Childhood Anaplastic Oligodendroglioma 		Neoplasms 0.010 1.000 1 2016 2016
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: C0280474
Disease: Childhood Glioblastoma
Childhood 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: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C3897070
Disease: Childhood Gliomatosis Cerebri
Childhood Gliomatosis Cerebri 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs121913502
rs121913502 		0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.020 1.000 2 2015 2015
dbSNP: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C1332979
Disease: Childhood Lymphoma
Childhood 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: C1332979
Disease: Childhood Lymphoma
Childhood 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: C3899649
Disease: Childhood Oligoastrocytoma
Childhood Oligoastrocytoma 		Neoplasms 0.010 1.000 1 2017 2017
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: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1057519736
rs1057519736 		0.752 0.160 15 90088605 missense variant C/G snv
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs121913502
rs121913502 		0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1057519906
rs1057519906 		0.882 0.120 15 90088607 missense variant T/A;C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121913502
rs121913502 		0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016