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.
D-2-HYDROXYGLUTARIC ACIDURIA 2
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
2 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.800 5 2010 2015
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
215 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.740 1.000 13 2010 2016
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
53 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.710 1.000 2 2012 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
226 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.700 1 2016 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
784 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.700 1 2016 2016
Squamous cell carcinoma of the head and neck
288 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.700 1 2016 2016
leukemia
CUI: C0023418
Disease: leukemia
76 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.020 1.000 2 2015 2015
Acute Erythroblastic Leukemia
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
4 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.010 1.000 1 2015 2015
Blast Phase
CUI: C0005699
Disease: Blast Phase
13 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.010 1.000 1 2010 2010
Blastic plasmacytoid dendritic cell neoplasm
1 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.010 1.000 1 2015 2015
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
22 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.010 1.000 1 2015 2015
Combined D-2- and L-2-hydroxyglutaric aciduria
11 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.010 1.000 1 2011 2011
D-2-hydroxyglutaric aciduria
CUI: C1833429
Disease: D-2-hydroxyglutaric aciduria
6 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.010 1.000 1 2011 2011
D-2-HYDROXYGLUTARIC ACIDURIA 1
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
7 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.010 1.000 1 2011 2011
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
20 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.010 1.000 1 2010 2010