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.
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
1 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.700 0
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
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
Vascular lesions
CUI: C1402315
Disease: Vascular lesions
9 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2011 2011
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
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
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
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
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
193 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
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
Malignant transformation
CUI: C1608408
Disease: Malignant transformation
20 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2013 2013
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
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
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
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
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
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
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
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
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
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 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
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