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: rs587779413
rs587779413
TCIRG1
2 0.925 0.080 11 68050224 missense variant C/A snv 0.700 1.000 1 2014 2014
dbSNP: rs121908165
rs121908165
HAX1
4 0.925 0.120 1 154273538 stop gained C/G;T snv 1.6E-05 0.030 1.000 3 2007 2008
dbSNP: rs387906553
rs387906553
ELANE
6 0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05 0.020 1.000 2 2002 2009
dbSNP: rs1131691903
rs1131691903
VPS45
4 0.882 0.160 1 150093558 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs132630274
rs132630274
WAS
4 0.882 0.120 X 48688331 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs137854450
rs137854450
ELANE
4 0.882 0.080 19 855574 stop gained C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1423958279
rs1423958279
LCN2
2 1.000 0.080 9 128150310 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs28931611
rs28931611
ELANE
3 0.925 0.080 19 853019 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs773967246
rs773967246
LCN2
2 1.000 0.080 9 128149560 missense variant T/C snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs782269909
rs782269909
VPS45
3 0.925 0.080 1 150081366 missense variant G/A snv 8.2E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs879255237
rs879255237
VPS45
7 0.807 0.160 1 150077763 missense variant C/A snv 0.010 1.000 1 2013 2013