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: rs121909587
rs121909587
C5
1 1.000 0.080 9 121050192 stop gained G/A snv 1.4E-04 4.2E-04 0.700 0
dbSNP: rs121909588
rs121909588
C5
2 1.000 0.080 9 120962749 stop gained G/A snv 7.6E-05 1.7E-04 0.700 0
dbSNP: rs1554718962
rs1554718962
C5
1 1.000 0.080 9 120962955 frameshift variant C/- delins 0.700 0
dbSNP: rs387906554
rs387906554
C5 ; C5-OT1
1 1.000 0.080 9 120953758 frameshift variant GG/C delins 0.700 0
dbSNP: rs587776846
rs587776846
C5
1 1.000 0.080 9 121023405 missense variant T/C snv 0.700 0