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: rs762607581
rs762607581
F2
1 1.000 0.040 11 46739317 missense variant G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs780533499
rs780533499
THBD
1 1.000 0.040 20 23048100 missense variant C/A;T snv 4.1E-06 0.010 1.000 1 2007 2007
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 0.500 2 2008 2018
dbSNP: rs13146272
rs13146272
CYP4V2
3 1.000 0.040 4 186199057 missense variant C/A snv 0.57 0.61 0.010 1.000 1 2008 2008
dbSNP: rs1613662
rs1613662
GP6 ; LOC107985325
8 0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83 0.010 1.000 1 2008 2008
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2008 2008
dbSNP: rs2227589
rs2227589
SERPINC1
3 0.925 0.120 1 173917078 intron variant C/T snv 9.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs4987262
rs4987262
PTGIR
4 0.882 0.040 19 46623592 missense variant G/A;C snv 7.1E-03 0.010 1.000 1 2008 2008
dbSNP: rs7080536
rs7080536
HABP2 ; NRAP
27 0.683 0.360 10 113588287 missense variant G/A snv 2.2E-02 2.4E-02 0.010 1.000 1 2008 2008
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: 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: rs422187
rs422187
F9
1 1.000 0.040 X 139550700 intron variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs6048
rs6048
F9
2 1.000 0.040 X 139551121 missense variant A/G snv 0.22 0.23 0.010 1.000 1 2009 2009
dbSNP: rs7586970
rs7586970
TFPI ; LOC105373786
2 0.925 0.040 2 187478770 missense variant T/C;G snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs764948729
rs764948729
PLG
3 0.925 0.080 6 160731092 missense variant A/C snv 4.0E-06 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 0.020 1.000 2 2010 2013
dbSNP: rs121909613
rs121909613
FGA
5 0.882 0.160 4 154585712 splice acceptor variant G/A;C;T snv 4.8E-05; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2000813
rs2000813
LIPG
9 0.763 0.200 18 49567494 missense variant C/A;T snv 4.0E-06; 0.27; 4.0E-06 0.23 0.010 < 0.001 1 2010 2010
dbSNP: rs2097055
rs2097055
LIPG
2 0.925 0.040 18 49569117 intron variant T/C snv 0.55 0.010 1.000 1 2010 2010
dbSNP: rs6507931
rs6507931
LIPG
3 0.882 0.080 18 49586638 intron variant C/T snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs1800386
rs1800386
VWF
5 0.851 0.120 12 6018667 missense variant T/C snv 2.7E-03 2.3E-03 0.010 < 0.001 1 2011 2011
dbSNP: rs747301897
rs747301897
ERCC2
3 1.000 0.040 19 45363999 synonymous variant G/A snv 7.1E-06 0.010 1.000 1 2011 2011
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: rs2227721
rs2227721
VTN ; SARM1
2 0.925 0.080 17 28370430 intron variant C/A;T snv 0.12 0.010 1.000 1 2013 2013