rs121913502, IDH2

N. diseases: 19
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.
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.780 1.000 16 2010 2019
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.720 1.000 3 2010 2016
D-2-HYDROXYGLUTARIC ACIDURIA 2
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
2 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.800 1.000 2 2010 2011
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
29 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.010 1.000 1 2010 2010
Combined D-2- and L-2-hydroxyglutaric aciduria
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
14 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.010 1.000 1 2011 2011
D-2-hydroxyglutaric aciduria
CUI: C1833429
Disease: D-2-hydroxyglutaric aciduria
6 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.010 1.000 1 2011 2011
D-2-HYDROXYGLUTARIC ACIDURIA 1
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
15 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.010 1.000 1 2011 2011
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.030 1.000 3 2013 2015
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.030 1.000 3 2013 2015
Acute Erythroblastic Leukemia
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
5 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.020 1.000 2 2015 2017
Adult Erythroleukemia
CUI: C2347748
Disease: Adult Erythroleukemia
4 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.020 1.000 2 2015 2017
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
140 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.020 1.000 2 2015 2015
Erythroleukemia (Erythroid/Myeloid)
CUI: C4520840
Disease: Erythroleukemia (Erythroid/Myeloid)
4 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.020 1.000 2 2015 2017
leukemia
CUI: C0023418
Disease: leukemia
144 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.020 1.000 2 2015 2015
Blastic plasmacytoid dendritic cell neoplasm
CUI: C1301363
Disease: Blastic plasmacytoid dendritic cell neoplasm
2 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.010 1.000 1 2015 2015
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
47 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.010 1.000 1 2015 2015
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.700 1.000 1 2016 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.700 1.000 1 2016 2016
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
348 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.700 1.000 1 2016 2016