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: 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: 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: 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: 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: 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: rs11540478
rs11540478 		0.851 0.080 15 90085305 synonymous variant G/A;C snv 3.5E-02; 6.4E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2017 2018
dbSNP: rs11540478
rs11540478 		0.851 0.080 15 90085305 synonymous variant G/A;C snv 3.5E-02; 6.4E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2017 2018
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: rs11540478
rs11540478 		0.851 0.080 15 90085305 synonymous variant G/A;C snv 3.5E-02; 6.4E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs529638451
rs529638451 		0.925 0.080 15 90088732 missense variant T/A snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs529638451
rs529638451 		0.925 0.080 15 90088732 missense variant T/A snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs529638451
rs529638451 		0.925 0.080 15 90088732 missense variant T/A snv
CUI: C0599055
Disease: Waldenstrom's disease
Waldenstrom's disease 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
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: rs1353428252
rs1353428252 		0.851 0.120 15 90088681 missense variant A/C snv 8.0E-06
CUI: C0020981
Disease: Angioimmunoblastic Lymphadenopathy
Angioimmunoblastic Lymphadenopathy 		Immune System Diseases; Hemic and Lymphatic Diseases 0.060 1.000 6 2014 2019
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: 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: rs1057519906
rs1057519906 		0.882 0.120 15 90088607 missense variant T/A;C snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2012 2012
dbSNP: rs1057519906
rs1057519906 		0.882 0.120 15 90088607 missense variant T/A;C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1299878535
rs1299878535 		1.000 0.120 15 90091555 missense variant T/C snv 4.0E-06
CUI: C1710096
Disease: Sinonasal undifferentiated carcinoma
Sinonasal undifferentiated carcinoma 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017