Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397514767
rs397514767
CD59
7 0.807 0.240 11 33710247 missense variant C/T snv 4.0E-06 0.810 1.000 3 1992 2015
dbSNP: rs1554939509
rs1554939509
CD59
1 1.000 0.160 11 33710323 missense variant A/C snv 0.700 0
dbSNP: rs587777149
rs587777149
CD59
1 1.000 0.160 11 33717393 frameshift variant T/- del 0.700 0
dbSNP: rs1445335859
rs1445335859
PIGA
5 0.851 0.240 X 15331662 missense variant T/C snv 9.4E-06 0.010 1.000 1 2015 2015