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: 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: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		Neoplasms 0.020 1.000 2 2017 2019
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: rs1057519736
rs1057519736 		0.752 0.160 15 90088605 missense variant C/G snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.020 1.000 2 2013 2014
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
dbSNP: rs1057519736
rs1057519736 		0.752 0.160 15 90088605 missense variant C/G snv
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2013 2013
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: 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