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: 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: 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: 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: 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: 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: 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: 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
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
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