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.
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
Mixed Oligodendroglioma-Astrocytoma
CUI: C0280793
Disease: Mixed Oligodendroglioma-Astrocytoma
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
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
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
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
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
Glioblastoma, IDH-Wildtype
CUI: C1514422
Disease: Glioblastoma, IDH-Wildtype
4 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2020 2020
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
Gliomatosis cerebri
CUI: C0334576
Disease: 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
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
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
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
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
Grade III Childhood Astrocytoma
CUI: C4551548
Disease: Grade III Childhood 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
Vascular lesions
CUI: C1402315
Disease: Vascular lesions
9 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2011 2011
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
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
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
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
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
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
21 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.060 1.000 6 2013 2017
Well Differentiated Oligodendroglioma
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
22 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.060 1.000 6 2013 2017
Hemangioma
CUI: C0018916
Disease: Hemangioma
24 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2011 2011
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
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