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.
Well Differentiated Oligodendroglioma
22 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.100 1.000 15 2012 2019
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
Uveal melanoma
CUI: C0220633
Disease: Uveal melanoma
22 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
169 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.050 1.000 5 2014 2020
Transitional cell carcinoma of bladder
158 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
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
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
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
Recurrent tumor
CUI: C0521158
Disease: Recurrent tumor
33 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
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
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
1168 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.060 1.000 6 2012 2018
Primary cholangiocarcinoma of intrahepatic biliary tract
10 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
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
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
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
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
21 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.100 1.000 15 2012 2019
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
712 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
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
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.100 0.942 52 2009 2019
Neoplasm, Residual
CUI: C0242596
Disease: Neoplasm, Residual
23 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
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