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.
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
108 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Adenoid Cystic Carcinoma
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
30 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
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
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 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
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
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
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
CUI: C1845055
Disease: 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 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
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
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
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
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 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
Brain Stem Glioma
CUI: C0677865
Disease: Brain Stem Glioma
45 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
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 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
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