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: rs1010898370
rs1010898370
IDH1
1.000 2 208243469 missense variant T/C;G snv 8.0E-06
CUI: C0856053
Disease: Leukemia secondary
Leukemia secondary 		0.010 1.000 1 2017 2017
dbSNP: rs1010898370
rs1010898370
IDH1
1.000 2 208243469 missense variant T/C;G snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs1040177874
rs1040177874
IDH1
0.925 0.040 2 208239914 missense variant G/A snv 4.0E-06
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 1.000 1 2016 2016
dbSNP: rs1040177874
rs1040177874
IDH1
0.925 0.040 2 208239914 missense variant G/A snv 4.0E-06
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.010 1.000 1 2016 2016
dbSNP: rs11554137
rs11554137
IDH1
0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.010 1.000 1 2011 2011
dbSNP: rs11554137
rs11554137
IDH1
0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2018 2018
dbSNP: rs11554137
rs11554137
IDH1
0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		0.010 1.000 1 2013 2013
dbSNP: rs11554137
rs11554137
IDH1
0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs11554137
rs11554137
IDH1
0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs11554137
rs11554137
IDH1
0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02
CUI: C0017638
Disease: Glioma
Glioma 		0.010 1.000 1 2018 2018
dbSNP: rs11554137
rs11554137
IDH1
0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02
CUI: C3839868
Disease: Cytogenetically normal acute myeloid leukemia
Cytogenetically normal acute myeloid leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs11554137
rs11554137
IDH1
0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs11554137
rs11554137
IDH1
0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs11554137
rs11554137
IDH1
0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02
CUI: C0220615
Disease: Adult Acute Myeloblastic Leukemia
Adult Acute Myeloblastic Leukemia 		0.010 1.000 1 2011 2011
dbSNP: rs11554137
rs11554137
IDH1
0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02
CUI: C1519214
Disease: Glioblastoma, IDH-Mutant
Glioblastoma, IDH-Mutant 		0.010 1.000 1 2018 2018
dbSNP: rs121913499
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.010 1.000 1 2010 2010
dbSNP: rs121913499
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs121913499
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.010 1.000 1 2012 2012
dbSNP: rs121913499
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.010 1.000 1 2009 2009
dbSNP: rs121913499
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma 		0.010 1.000 1 2012 2012
dbSNP: rs121913499
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C1333067
Disease: Clear Cell Hepatocellular Carcinoma
Clear Cell Hepatocellular Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs121913499
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2013 2013
dbSNP: rs121913499
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.010 1.000 1 2010 2010
dbSNP: rs121913499
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs121913499
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2010 2010