rs121913500, IDH1

N. diseases: 96
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.
Anaplastic astrocytoma
CUI: C0334579
Disease: Anaplastic astrocytoma
12 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.100 1.000 11 2011 2020
Adult Oligodendroglioma
CUI: C0279070
Disease: Adult Oligodendroglioma
19 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.080 1.000 8 2012 2019
Childhood Oligodendroglioma
CUI: C0280475
Disease: Childhood Oligodendroglioma
19 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.080 1.000 8 2012 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.060 1.000 6 2012 2018
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.060 1.000 6 2012 2018
Adult Anaplastic Astrocytoma
CUI: C0280483
Disease: Adult Anaplastic Astrocytoma
8 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.050 1.000 5 2014 2018
Grade III Childhood Astrocytoma
CUI: C4551548
Disease: Grade III Childhood Astrocytoma
8 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.050 1.000 5 2014 2018
Malignant Glioma
CUI: C0555198
Disease: Malignant Glioma
22 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.050 1.000 5 2013 2017
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
169 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.050 1.000 5 2014 2020
Childhood Astrocytoma
CUI: C4086152
Disease: Childhood Astrocytoma
39 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.040 0.750 4 2014 2018
Diffuse Glioma
CUI: C4289690
Disease: Diffuse Glioma
7 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.040 0.750 4 2012 2019
Diffuse Astrocytoma
CUI: C0280785
Disease: Diffuse Astrocytoma
8 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.030 1.000 3 2013 2018
Glioblastoma, IDH-Mutant
CUI: C1519214
Disease: Glioblastoma, IDH-Mutant
4 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.030 0.667 3 2012 2018
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
32 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2019 2019
Anaplastic Oligoastrocytoma
CUI: C0431108
Disease: Anaplastic Oligoastrocytoma
4 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2015 2016
Anaplastic Oligodendroglioma
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
7 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2012 2016
Childhood Anaplastic Oligoastrocytoma
4 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2015 2016
Childhood Gliomatosis Cerebri
CUI: C3897070
Disease: Childhood Gliomatosis Cerebri
6 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2011 2012
Childhood Oligoastrocytoma
CUI: C3899649
Disease: Childhood Oligoastrocytoma
3 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2012 2017
Childhood Pleomorphic Xanthoastrocytoma
7 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2016 2018
Enchondroma
CUI: C1704356
Disease: Enchondroma
13 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2011 2018
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2018 2018
Gliomatosis cerebri
CUI: C0334576
Disease: Gliomatosis cerebri
6 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2011 2012
Mixed Oligodendroglioma-Astrocytoma
CUI: C0280793
Disease: Mixed Oligodendroglioma-Astrocytoma
3 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2012 2017
Pilocytic Astrocytoma
CUI: C0334583
Disease: Pilocytic Astrocytoma
14 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2014 2015