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: 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: rs1057519906
rs1057519906 		0.882 0.120 15 90088607 missense variant T/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519906
rs1057519906 		0.882 0.120 15 90088607 missense variant T/A;C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
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: 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: 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
dbSNP: rs121913502
rs121913502 		0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		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
dbSNP: rs121913502
rs121913502 		0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular 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: 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: rs121913503
rs121913503 		0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
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: rs267606870
rs267606870 		0.763 0.280 15 90088703 missense variant G/A;C snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs267606870
rs267606870 		0.763 0.280 15 90088703 missense variant G/A;C snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs267606870
rs267606870 		0.763 0.280 15 90088703 missense variant G/A;C snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
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: rs1057519736
rs1057519736 		0.752 0.160 15 90088605 missense variant C/G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
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
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: 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: rs1057519736
rs1057519736 		0.752 0.160 15 90088605 missense variant C/G snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1057519736
rs1057519736 		0.752 0.160 15 90088605 missense variant C/G snv
CUI: C1402315
Disease: Vascular lesions
Vascular lesions 		0.010 1.000 1 2011 2011
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