IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10
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: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.100 0.942 52 2009 2019
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.800 1.000 49 2009 2019
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.800 0.977 43 2010 2020
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.100 0.969 32 2009 2020
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.100 1.000 18 2011 2019
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.100 1.000 18 2011 2019
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		Neoplasms 0.100 1.000 15 2012 2019
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		Neoplasms 0.100 1.000 15 2012 2019
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.800 0.923 13 2009 2018
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.760 0.923 13 2009 2019
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.790 1.000 11 2010 2018
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		Neoplasms 0.100 1.000 11 2011 2020
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.740 1.000 10 2009 2016
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		Neoplasms 0.080 1.000 8 2012 2019
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		Neoplasms 0.080 1.000 8 2012 2019
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.060 1.000 6 2009 2019
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.060 1.000 6 2012 2018
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.060 1.000 6 2012 2018
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0280483
Disease: Adult Anaplastic Astrocytoma
Adult Anaplastic Astrocytoma 		Neoplasms 0.050 1.000 5 2014 2018
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		Neoplasms 0.050 1.000 5 2013 2017
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C4551548
Disease: Grade III Childhood Astrocytoma
Grade III Childhood Astrocytoma 		Neoplasms 0.050 1.000 5 2014 2018
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.050 1.000 5 2014 2020
dbSNP: rs11554137
rs11554137 		0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.040 0.750 4 2010 2018
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.720 1.000 4 2009 2014
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C4289690
Disease: Diffuse Glioma
Diffuse Glioma 		Neoplasms 0.040 0.750 4 2012 2019