rs118101777, IDH2

N. diseases: 42
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Adult Anaplastic Astrocytoma
CUI: C0280483
Disease: Adult Anaplastic Astrocytoma
8 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.020 1.000 2 2016 2017
Adult Anaplastic Oligodendroglioma
CUI: C0280790
Disease: Adult Anaplastic Oligodendroglioma
4 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2016 2016
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
98 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.050 0.800 5 2013 2017
Adult Oligodendroglioma
CUI: C0279070
Disease: Adult Oligodendroglioma
19 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.030 1.000 3 2013 2016
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
32 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2019 2019
Anaplastic astrocytoma
CUI: C0334579
Disease: Anaplastic astrocytoma
12 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.040 1.000 4 2015 2020
Anaplastic Oligoastrocytoma
CUI: C0431108
Disease: Anaplastic Oligoastrocytoma
4 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.020 1.000 2 2015 2016
Anaplastic Oligodendroglioma
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
7 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2016 2016
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
59 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.030 0.667 3 2015 2018
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
CUI: C1859598
Disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
19 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2015 2015
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.020 1.000 2 2011 2017
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2015 2015
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1 2016 2016
Childhood Anaplastic Oligoastrocytoma
CUI: C3899676
Disease: Childhood Anaplastic Oligoastrocytoma
4 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.020 1.000 2 2015 2016
Childhood Anaplastic Oligodendroglioma
CUI: C1332943
Disease: Childhood Anaplastic Oligodendroglioma
4 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2016 2016
Childhood Astrocytoma
CUI: C4086152
Disease: Childhood Astrocytoma
39 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.020 0.500 2 2015 2018
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
98 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.050 0.800 5 2013 2017
Childhood Gliomatosis Cerebri
CUI: C3897070
Disease: Childhood Gliomatosis Cerebri
6 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2012 2012
Childhood Oligoastrocytoma
CUI: C3899649
Disease: Childhood Oligoastrocytoma
3 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2017 2017
Childhood Oligodendroglioma
CUI: C0280475
Disease: Childhood Oligodendroglioma
19 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.030 1.000 3 2013 2016
Diffuse Astrocytoma
CUI: C0280785
Disease: Diffuse Astrocytoma
8 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.020 1.000 2 2016 2018
Diffuse Glioma
CUI: C4289690
Disease: Diffuse Glioma
7 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2018 2018
Enchondroma
CUI: C1704356
Disease: Enchondroma
13 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2011 2011
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2018 2018
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.100 0.909 11 2011 2020