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 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
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 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
CUI: C3899645
Disease: 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
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 2 2016 2018
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
Pleomorphic Xanthoastrocytoma
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
8 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2016 2018
Seizures
CUI: C0036572
Disease: Seizures
553 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2014 2017
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 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 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