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.
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.851 0.200 17 76736877 missense variant G/A;C;T snv 6.3E-05; 2.9E-05; 1.2E-04 0.020 1.000 2 2016 2019
Blastic plasmacytoid dendritic cell neoplasm
CUI: C1301363
Disease: Blastic plasmacytoid dendritic cell neoplasm
2 0.851 0.200 17 76736877 missense variant G/A;C;T snv 6.3E-05; 2.9E-05; 1.2E-04 0.010 1.000 1 2018 2018
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.851 0.200 17 76736877 missense variant G/A;C;T snv 6.3E-05; 2.9E-05; 1.2E-04 0.010 1.000 1 2016 2016
Monosomy 7 of Bone Marrow
CUI: C1854978
Disease: Monosomy 7 of Bone Marrow
1 0.851 0.200 17 76736877 missense variant G/A;C;T snv 6.3E-05; 2.9E-05; 1.2E-04 0.010 1.000 1 2018 2018
Myeloid neoplasm
CUI: C2939461
Disease: Myeloid neoplasm
5 0.851 0.200 17 76736877 missense variant G/A;C;T snv 6.3E-05; 2.9E-05; 1.2E-04 0.010 1.000 1 2018 2018