Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 ×
Source: ALL
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: rs1555876283
rs1555876283 		0.925 0.080 20 45416526 frameshift variant A/- del
CUI: C3809369
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 		0.700 0
dbSNP: rs587777028
rs587777028 		1.000 20 45424494 splice acceptor variant A/G snv
CUI: C3809369
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 		0.700 0
dbSNP: rs776974834
rs776974834 		0.882 0.160 20 45420215 frameshift variant AAAG/- delins 1.2E-05 7.0E-06
CUI: C3809369
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 		0.700 0