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: 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
dbSNP: rs4149584
rs4149584
TNFRSF1A
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs422951
rs422951
NOTCH4
8 0.807 0.280 6 32220606 missense variant T/C snv 0.40 0.40 0.010 1.000 1 2013 2013
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2012 2012