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: C1519214
Disease: Glioblastoma, IDH-Mutant
Glioblastoma, IDH-Mutant 		Neoplasms 0.030 0.667 3 2012 2018
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0280785
Disease: Diffuse Astrocytoma
Diffuse Astrocytoma 		Neoplasms 0.030 1.000 3 2013 2018
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.020 1.000 2 2009 2018
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.020 1.000 2 2009 2011
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2018 2019
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.720 1.000 2 2011 2012
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.710 1.000 2 2012 2016
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.710 1.000 2 2016 2017
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.710 1.000 2 2011 2016
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0018916
Disease: Hemangioma
Hemangioma 		Neoplasms 0.020 1.000 2 2011 2013
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.020 1.000 2 2010 2018
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.020 1.000 2 2018 2018
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C3899649
Disease: Childhood Oligoastrocytoma
Childhood Oligoastrocytoma 		Neoplasms 0.020 1.000 2 2012 2017
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		Neoplasms 0.020 1.000 2 2016 2018
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2014 2017
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0431108
Disease: Anaplastic Oligoastrocytoma
Anaplastic Oligoastrocytoma 		Neoplasms 0.020 1.000 2 2015 2016
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C3899676
Disease: Childhood Anaplastic Oligoastrocytoma
Childhood Anaplastic Oligoastrocytoma 		0.020 1.000 2 2015 2016
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0334576
Disease: Gliomatosis cerebri
Gliomatosis cerebri 		Neoplasms 0.020 1.000 2 2011 2012
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma 		Neoplasms 0.020 1.000 2 2014 2015
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0280793
Disease: Mixed Oligodendroglioma-Astrocytoma
Mixed Oligodendroglioma-Astrocytoma 		Neoplasms 0.020 1.000 2 2012 2017
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma 		Neoplasms 0.020 1.000 2 2012 2016
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
Childhood Pleomorphic Xanthoastrocytoma 		0.020 1.000 2 2016 2018
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C1704356
Disease: Enchondroma
Enchondroma 		Neoplasms 0.020 1.000 2 2011 2018
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2019 2019
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.710 1.000 2 2016 2018