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: rs1057519906
rs1057519906 		0.882 0.120 15 90088607 missense variant T/A;C snv
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		0.700 1.000 2 2009 2015
dbSNP: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		0.700 1.000 2 2009 2015
dbSNP: rs121913502
rs121913502 		0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.780 1.000 16 2010 2019
dbSNP: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.720 1.000 12 2010 2016
dbSNP: rs267606870
rs267606870 		0.763 0.280 15 90088703 missense variant G/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.710 1.000 5 2010 2016
dbSNP: rs121913502
rs121913502 		0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.720 1.000 3 2010 2016
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: rs1042026735
rs1042026735 		1.000 0.040 15 90088650 synonymous variant G/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs121913502
rs121913502 		0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs200758694
rs200758694 		1.000 0.040 15 90088686 synonymous variant C/A;G;T snv 6.8E-05; 4.0E-06; 6.0E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs267606870
rs267606870 		0.763 0.280 15 90088703 missense variant G/A;C snv
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs267606870
rs267606870 		0.763 0.280 15 90088703 missense variant G/A;C snv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
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: 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: 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: rs773159667
rs773159667 		1.000 0.040 15 90087549 synonymous variant G/A snv 8.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 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: 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: rs1057519736
rs1057519736 		0.752 0.160 15 90088605 missense variant C/G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 4 2011 2014
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: rs1057519736
rs1057519736 		0.752 0.160 15 90088605 missense variant C/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		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: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2011 2017
dbSNP: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		Neoplasms 0.020 1.000 2 2011 2014
dbSNP: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		Neoplasms 0.020 1.000 2 2011 2014
dbSNP: rs1057519736
rs1057519736 		0.752 0.160 15 90088605 missense variant C/G snv
CUI: C0018916
Disease: Hemangioma
Hemangioma 		Neoplasms 0.010 1.000 1 2011 2011