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: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.010 1.000 1 2018 2018
dbSNP: rs5743618
rs5743618
TLR1
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.010 1.000 1 2016 2016
dbSNP: rs5743810
rs5743810
TLR1 ; TLR6
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.010 1.000 1 2016 2016
dbSNP: rs5744454
rs5744454
CD14 ; TMCO6
1 1.000 0.040 5 140633982 upstream gene variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs708567
rs708567
IL17RC
6 0.807 0.200 3 9918386 missense variant C/T snv 0.46 0.51 0.010 1.000 1 2012 2012
dbSNP: rs7291467
rs7291467
LGALS2
4 0.851 0.160 22 37576621 intron variant G/A snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs762513613
rs762513613
FCGR2C
11 0.752 0.280 1 161591315 missense variant A/G snv 4.2E-06 7.4E-06 0.010 1.000 1 2010 2010
dbSNP: rs76723693
rs76723693
G6PD
3 0.882 0.160 X 154533025 missense variant A/G snv 5.3E-04 1.5E-03 0.010 1.000 1 2014 2014
dbSNP: rs8177374
rs8177374
TIRAP
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.010 1.000 1 2016 2016
dbSNP: rs8179190
rs8179190
IL4 ; LOC105379176
1 1.000 0.040 5 132680584 intron variant AAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAATG/- delins 0.010 1.000 1 2015 2015
dbSNP: rs9282801
rs9282801
NOS2
1 1.000 0.040 17 27769447 intron variant C/A snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs9624472
rs9624472
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
2 0.925 0.040 22 24438763 splice region variant A/G snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs993269089
rs993269089
ACOT7
1 1.000 0.040 1 6385564 missense variant A/C;T snv 4.0E-06 0.010 < 0.001 1 2014 2014