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: 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: 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: rs1193689718
rs1193689718
PKLR
2 0.925 0.080 1 155294335 frameshift variant -/C delins 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs2706384
rs2706384
IRF1
1 1.000 0.040 5 132491188 intron variant G/T snv 0.60 0.010 1.000 1 2011 2011
dbSNP: rs33930165
rs33930165
HBB
5 0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs40401
rs40401
IL3 ; LOC105379174
8 0.776 0.440 5 132060785 missense variant C/T snv 0.29 0.33 0.010 1.000 1 2011 2011
dbSNP: rs9658676
rs9658676
ACTA2 ; FAS
1 1.000 0.040 10 88990441 non coding transcript exon variant C/A snv 2.6E-02 0.010 1.000 1 2011 2011