Source: BEFREE ×
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
221 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
3 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
20 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
20 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: rs1695
rs1695
GSTP1
187 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 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: rs334
rs334
HBB
11 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.810 1.000 1 2009 2018
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: rs17860508
rs17860508
LOC285626
11 0.752 0.360 5 159333192 intron variant TTAGAG/GC delins 0.020 1.000 2 2010 2018
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
1 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
dbSNP: rs10900585
rs10900585
ATP2B4
1 1.000 0.040 1 203684896 intron variant G/T snv 0.81 0.810 1.000 1 2012 2013
dbSNP: rs12085877
rs12085877
MASP2 ; TARDBP
1 1.000 0.040 1 11027630 missense variant C/T snv 7.1E-03 2.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs147689373
rs147689373
PKLR
2 0.925 0.160 1 155294618 missense variant C/T snv 6.9E-04 2.6E-03 0.010 1.000 1 2012 2012
dbSNP: rs1800451
rs1800451
MBL2
8 0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02 0.010 1.000 1 2012 2012