Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0017638
Disease: Glioma
Glioma 		0.800 1.000 49 2009 2019
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.800 0.977 42 2010 2020
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.800 0.923 12 2009 2018
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.790 1.000 9 2010 2018
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.760 0.923 6 2009 2019
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.710 1.000 1 2016 2018
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 0.942 52 2009 2019
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.100 0.969 32 2009 2020
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.100 1.000 18 2011 2019
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.100 1.000 18 2011 2019
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.100 1.000 15 2012 2019
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.100 1.000 15 2012 2019
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		0.100 1.000 11 2011 2020
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		0.080 1.000 8 2012 2019
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		0.080 1.000 8 2012 2019
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 1.000 6 2012 2018
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 1.000 6 2012 2018
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C4551548
Disease: Grade III Childhood Astrocytoma
Grade III Childhood Astrocytoma 		0.050 1.000 5 2014 2018
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0280483
Disease: Adult Anaplastic Astrocytoma
Adult Anaplastic Astrocytoma 		0.050 1.000 5 2014 2018
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.050 1.000 5 2014 2020
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		0.050 1.000 5 2013 2017
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.040 0.750 4 2014 2018
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C4289690
Disease: Diffuse Glioma
Diffuse Glioma 		0.040 0.750 4 2012 2019
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C1519214
Disease: Glioblastoma, IDH-Mutant
Glioblastoma, IDH-Mutant 		0.030 0.667 3 2012 2018
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0280785
Disease: Diffuse Astrocytoma
Diffuse Astrocytoma 		0.030 1.000 3 2013 2018