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: rs281865545
rs281865545
PECAM1
18 0.695 0.360 17 64377836 missense variant C/G;T snv 0.010 1.000 1 2001 2001
dbSNP: rs762513613
rs762513613
FCGR2C
11 0.752 0.280 1 161591315 missense variant A/G snv 4.2E-06 7.4E-06 0.020 0.500 2 2006 2013
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 1.000 3 2007 2018
dbSNP: rs3211938
rs3211938
CD36
5 0.882 0.200 7 80671133 stop gained T/G snv 6.2E-03 2.6E-02 0.010 1.000 1 2008 2008
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 2008 2008
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 2008 2008
dbSNP: rs668
rs668
PECAM1
4 0.851 0.240 17 64377836 missense variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs9429942
rs9429942
CR1
2 0.925 0.080 1 207495285 upstream gene variant C/T snv 0.64 0.010 1.000 1 2008 2008
dbSNP: rs8177374
rs8177374
TIRAP
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.050 1.000 5 2009 2017
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.810 1.000 4 2009 2018
dbSNP: rs281864519
rs281864519
HBB
1 1.000 0.040 11 5227003 frameshift variant CA/- del 0.700 1.000 2 2009 2012
dbSNP: rs10192428
rs10192428
SPATA3
1 1.000 0.040 2 231014025 3 prime UTR variant G/A snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs11036238
rs11036238 		2 1.000 0.040 11 5204405 upstream gene variant G/C snv 0.21 0.800 1.000 1 2009 2009
dbSNP: rs12405994
rs12405994
LOC105378806
1 1.000 0.040 1 75969735 intron variant A/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1417402
rs1417402
LOC105378806
1 1.000 0.040 1 75971511 intron variant G/A snv 7.1E-02 0.700 1.000 1 2009 2009
dbSNP: rs1543061
rs1543061
SPATA3
1 1.000 0.040 2 231013781 intron variant C/T snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2009 2009
dbSNP: rs17728971
rs17728971 		1 1.000 0.040 14 45998628 intron variant A/G snv 0.39 0.700 1.000 1 2009 2009
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2009 2009
dbSNP: rs316414
rs316414 		1 1.000 0.040 5 43004178 downstream gene variant A/G snv 0.67 0.700 1.000 1 2009 2009
dbSNP: rs3811070
rs3811070
FUT9
1 1.000 0.040 6 96111973 intron variant C/G;T snv 0.42 0.010 1.000 1 2009 2009
dbSNP: rs488069
rs488069
POMGNT2 ; LOC107986079
2 0.925 0.080 3 43090952 intron variant C/T snv 0.79 0.700 1.000 1 2009 2009
dbSNP: rs6503319
rs6503319
MYH3
1 1.000 0.040 17 10670842 downstream gene variant C/T snv 0.31 0.800 1.000 1 2009 2009
dbSNP: rs6572335
rs6572335 		1 1.000 0.040 14 45965382 intron variant A/G snv 0.38 0.700 1.000 1 2009 2009
dbSNP: rs17860508
rs17860508
LOC285626
11 0.752 0.360 5 159333192 intron variant TTAGAG/GC delins 0.020 1.000 2 2010 2018