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.
de novo myelodysplastic syndromes
CUI: C0280451
Disease: de novo myelodysplastic syndromes
4 0.882 0.160 21 6486334 missense variant T/C;G snv 0.010 1.000 1 2015 2015
Leukemia, Myelomonocytic, Chronic
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
28 0.882 0.160 21 6486334 missense variant T/C;G snv 0.010 1.000 1 2013 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.882 0.160 21 6486334 missense variant T/C;G snv 0.010 1.000 1 2017 2017
Miller Dieker syndrome
CUI: C0265219
Disease: Miller Dieker syndrome
9 0.882 0.160 21 6486334 missense variant T/C;G snv 0.010 1.000 1 2015 2015
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.882 0.160 21 6486334 missense variant T/C;G snv 0.010 1.000 1 2015 2015
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.882 0.160 21 6486334 missense variant T/C;G snv 0.010 1.000 1 2017 2017