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: rs397514767
rs397514767
0.807 0.240 11 33710247 missense variant C/T snv 4.0E-06
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria
Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015