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: 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
dbSNP: rs2275697
rs2275697
CNTN2
1 1.000 0.080 1 205058609 missense variant G/A snv 0.24 0.18 0.010 1.000 1 2012 2012
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs397514767
rs397514767
CD59
7 0.807 0.240 11 33710247 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015