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.
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
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
Adult Pilocytic Astrocytoma
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
10 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
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
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
CUI: C1859598
Disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
19 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
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
Brain Tumor, Primary
CUI: C0750974
Disease: Brain Tumor, Primary
8 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2011 2011
Breast adenocarcinoma
CUI: C0858252
Disease: Breast adenocarcinoma
7 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2014 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1 2012 2012
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
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
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
Childhood Pilocytic Astrocytoma
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
10 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
Ependymoma
CUI: C0014474
Disease: Ependymoma
8 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2014 2014
Epileptic Seizures
CUI: C4317109
Disease: Epileptic Seizures
7 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
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
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
Hemangioma
CUI: C0018916
Disease: Hemangioma
24 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2011 2011
High grade glioma
CUI: C4722099
Disease: High grade glioma
15 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
Hurthle Cell Tumor
CUI: C0949541
Disease: Hurthle Cell Tumor
9 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2013 2013
Intrahepatic Cholangiocarcinoma
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
19 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
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
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
206 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
Malignant neoplasm of brain
CUI: C0153633
Disease: Malignant neoplasm of brain
16 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2019 2019