Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1445335859
rs1445335859
0.851 0.240 X 15331662 missense variant T/C snv 9.4E-06
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria
Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs34422225
rs34422225
0.925 0.040 X 15331876 missense variant G/A snv 3.0E-02 3.1E-02
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria
Hemic and Lymphatic Diseases 0.010 1.000 1 1996 1996