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.
Glioneuronal Tumor with Neuropil-Like Islands
CUI: C2985171
Disease: Glioneuronal Tumor with Neuropil-Like Islands
1 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
Recurrent Childhood Glioblastoma
CUI: C3897752
Disease: Recurrent Childhood Glioblastoma
1 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
Recurrent Glioblastoma
CUI: C4288305
Disease: Recurrent Glioblastoma
1 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
Spinal Cord Neoplasms
CUI: C0037930
Disease: Spinal Cord Neoplasms
1 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
GLIOBLASTOMA MULTIFORME, SOMATIC
CUI: C4016231
Disease: GLIOBLASTOMA MULTIFORME, SOMATIC
1 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.700 0
METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
CUI: C3553958
Disease: METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
1 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.700 0
Atypical Lipoma
CUI: C1266129
Disease: Atypical Lipoma
2 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
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
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
Adult Ependymoma
CUI: C0278874
Disease: Adult Ependymoma
3 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2014 2014
Angiocentric glioma
CUI: C2363903
Disease: Angiocentric glioma
3 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1 2012 2012
Childhood Ependymoma
CUI: C1851584
Disease: Childhood Ependymoma
3 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2014 2014
Newly Diagnosed Childhood Ependymoma
CUI: C0796611
Disease: Newly Diagnosed Childhood Ependymoma
3 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2014 2014
Pilocytic astrocytoma of cerebellum
CUI: C0349620
Disease: Pilocytic astrocytoma of cerebellum
3 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
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
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
Childhood Anaplastic Oligoastrocytoma
CUI: C3899676
Disease: 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
Adult Anaplastic Oligodendroglioma
CUI: C0280790
Disease: Adult Anaplastic Oligodendroglioma
4 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
Childhood Anaplastic Oligodendroglioma
CUI: C1332943
Disease: Childhood Anaplastic Oligodendroglioma
4 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
Glioblastoma, IDH-Wildtype
CUI: C1514422
Disease: Glioblastoma, IDH-Wildtype
4 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
Leukemia secondary
CUI: C0856053
Disease: Leukemia secondary
4 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
Neoplasms, Neuroepithelial
CUI: C0206715
Disease: Neoplasms, Neuroepithelial
5 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2013 2013
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
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
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