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.
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.100 0.942 52 2009 2019
Glioma
CUI: C0017638
Disease: Glioma
353 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 49 2009 2019
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.800 0.977 43 2010 2020
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
186 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.100 0.969 32 2009 2020
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
98 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.100 1.000 18 2011 2019
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
98 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.100 1.000 18 2011 2019
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
21 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.100 1.000 15 2012 2019
Well Differentiated Oligodendroglioma
22 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.100 1.000 15 2012 2019
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
59 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.800 0.923 13 2009 2018
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.760 0.923 13 2009 2019
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
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.790 1.000 11 2010 2018
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