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: rs5918
rs5918
ITGB3
26 0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13 0.010 1.000 1 2017 2017
dbSNP: rs779071898
rs779071898
F2
2 0.925 0.080 11 46739072 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.730 1.000 4 1998 2016
dbSNP: rs2289252
rs2289252
F11 ; F11-AS1
4 1.000 0.040 4 186286227 non coding transcript exon variant C/T snv 0.35 0.030 1.000 3 2009 2016
dbSNP: rs2036914
rs2036914
F11
5 0.882 0.160 4 186271327 intron variant T/C snv 0.57 0.020 1.000 2 2009 2016
dbSNP: rs6050
rs6050
FGA
10 0.827 0.120 4 154586438 missense variant T/A;C snv 0.29 0.020 1.000 2 2012 2016
dbSNP: rs113092656
rs113092656 		5 0.882 0.120 6 11615072 intergenic variant G/A snv 2.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs114209171
rs114209171
FUNDC2
5 0.882 0.120 X 155050522 non coding transcript exon variant T/C snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs17490626
rs17490626
TSPAN15
5 0.882 0.120 10 69458890 intron variant G/C snv 8.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs2089252
rs2089252 		1 1.000 0.040 4 75909495 downstream gene variant T/C snv 2.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs2232710
rs2232710
SERPINA10
2 1.000 0.040 14 94284149 missense variant T/C snv 8.1E-03 8.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs34234989
rs34234989
PROCR ; MMP24-AS1-EDEM2
5 0.882 0.120 20 35186731 intron variant A/- delins 0.40 0.700 1.000 1 2016 2016
dbSNP: rs4444878
rs4444878
F11-AS1
7 0.851 0.120 4 186292729 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs529565
rs529565
ABO
13 0.851 0.120 9 133274084 intron variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs60942712
rs60942712 		5 0.882 0.120 3 88998609 intergenic variant G/T snv 7.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs72798544
rs72798544
COX7A2L
5 0.882 0.120 2 42372465 intron variant T/G snv 1.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs7654093
rs7654093 		6 0.882 0.120 4 154623920 upstream gene variant A/T snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs9797861
rs9797861
SLC44A2
9 0.790 0.200 19 10632450 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.090 1.000 9 1999 2015
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2009 2015
dbSNP: rs1131012
rs1131012
PECAM1
10 0.763 0.280 17 64350416 missense variant T/C snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs1248438558
rs1248438558
F10
2 0.925 0.120 13 113149020 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1255283120
rs1255283120
MTHFR
7 0.807 0.160 1 11792345 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs12953
rs12953
PECAM1
9 0.763 0.200 17 64356203 missense variant C/A;T snv 0.38 0.010 1.000 1 2015 2015