Source: ALL

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: C0334576
Disease: Gliomatosis cerebri
Gliomatosis cerebri 		0.020 1.000 2 2011 2012
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0280793
Disease: Mixed Oligodendroglioma-Astrocytoma
Mixed Oligodendroglioma-Astrocytoma 		0.020 1.000 2 2012 2017
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma 		0.020 1.000 2 2014 2015
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C1704356
Disease: Enchondroma
Enchondroma 		0.020 1.000 2 2011 2018
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		0.020 1.000 2 2016 2018
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
Childhood Pleomorphic Xanthoastrocytoma 		0.020 1.000 2 2016 2018
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0431108
Disease: Anaplastic Oligoastrocytoma
Anaplastic Oligoastrocytoma 		0.020 1.000 2 2015 2016
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		0.020 1.000 2 2019 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 2 2016 2018
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.020 1.000 2 2014 2017
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C3899676
Disease: Childhood Anaplastic Oligoastrocytoma
Childhood Anaplastic Oligoastrocytoma 		0.020 1.000 2 2015 2016
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma 		0.020 1.000 2 2012 2016
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.020 1.000 2 2018 2018
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C3897070
Disease: Childhood Gliomatosis Cerebri
Childhood Gliomatosis Cerebri 		0.020 1.000 2 2011 2012
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2016 2016
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C2363903
Disease: Angiocentric glioma
Angiocentric glioma 		0.010 < 0.001 1 2012 2012
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C4288305
Disease: Recurrent Glioblastoma
Recurrent Glioblastoma 		0.010 1.000 1 2015 2015
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.010 1.000 1 2012 2012
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0037930
Disease: Spinal Cord Neoplasms
Spinal Cord Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C1859598
Disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA 		0.010 1.000 1 2015 2015
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		0.010 1.000 1 2019 2019
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0949541
Disease: Hurthle Cell Tumor
Hurthle Cell Tumor 		0.010 1.000 1 2013 2013
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 1.000 1 2016 2016
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
Childhood Pilocytic Astrocytoma 		0.010 1.000 1 2015 2015