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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs267606870
rs267606870 		0.763 0.280 15 90088703 missense variant G/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: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs267606870
rs267606870 		0.763 0.280 15 90088703 missense variant G/A;C snv
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121913502
rs121913502 		0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C1833429
Disease: D-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs267606870
rs267606870 		0.763 0.280 15 90088703 missense variant G/A;C snv
CUI: C1833429
Disease: D-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121913502
rs121913502 		0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1 		0.010 1.000 1 2011 2011
dbSNP: rs267606870
rs267606870 		0.763 0.280 15 90088703 missense variant G/A;C snv
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1 		0.010 1.000 1 2011 2011
dbSNP: rs121913502
rs121913502 		0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
D-2-HYDROXYGLUTARIC ACIDURIA 2 		0.800 1.000 2 2010 2011
dbSNP: rs267606870
rs267606870 		0.763 0.280 15 90088703 missense variant G/A;C snv
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
D-2-HYDROXYGLUTARIC ACIDURIA 2 		0.800 1.000 1 2010 2010
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: C4289690
Disease: Diffuse Glioma
Diffuse Glioma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1057519736
rs1057519736 		0.752 0.160 15 90088605 missense variant C/G snv
CUI: C1704356
Disease: Enchondroma
Enchondroma 		Neoplasms 0.020 1.000 2 2011 2019
dbSNP: rs118101777
rs118101777 		0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C1704356
Disease: Enchondroma
Enchondroma 		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: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121913502
rs121913502 		0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C4520840
Disease: Erythroleukemia (Erythroid/Myeloid)
Erythroleukemia (Erythroid/Myeloid) 		Neoplasms; Hemic and Lymphatic Diseases 0.020 1.000 2 2015 2017
dbSNP: rs529638451
rs529638451 		0.925 0.080 15 90088732 missense variant T/A snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		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: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1435266782
rs1435266782 		0.925 0.040 15 90088633 missense variant C/A;T snv 4.0E-06
CUI: C0206638
Disease: Giant Cell Tumor of Bone
Giant Cell Tumor of Bone 		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: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.100 0.909 11 2011 2020
dbSNP: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1435266782
rs1435266782 		0.925 0.040 15 90088633 missense variant C/A;T snv 4.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.010 1.000 1 2012 2012
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: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		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: C1514422
Disease: Glioblastoma, IDH-Wildtype
Glioblastoma, IDH-Wildtype 		Neoplasms 0.010 1.000 1 2020 2020