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: rs774229224
rs774229224
PLG
6 0.882 0.160 6 160706454 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2000 2014
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.020 1.000 2 2000 2009
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 1.000 2 2003 2009
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2004 2010
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2004 2010
dbSNP: rs1042579
rs1042579
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2004 2004
dbSNP: rs147377392
rs147377392
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.010 1.000 1 2004 2004
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2005 2005
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs768963
rs768963
2 0.925 0.120 19 3615409 non coding transcript exon variant G/A;C snv 0.030 1.000 3 2006 2015
dbSNP: rs2238634
rs2238634
2 0.925 0.200 19 3604731 intron variant A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs2271875
rs2271875
1 1.000 0.120 19 3626924 upstream gene variant T/C snv 0.68 0.010 1.000 1 2006 2006
dbSNP: rs4806942
rs4806942
1 1.000 0.120 19 3589341 intron variant G/A snv 0.13 0.010 1.000 1 2006 2006
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2006 2006
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 < 0.001 1 2006 2006
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.020 1.000 2 2008 2014
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.020 1.000 2 2008 2017
dbSNP: rs2241883
rs2241883
14 0.763 0.360 2 88124547 missense variant T/C snv 0.30 0.29 0.020 1.000 2 2008 2016
dbSNP: rs1059703
rs1059703
6 0.851 0.280 X 154013378 missense variant G/A snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs1799895
rs1799895
26 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 0.010 1.000 1 2008 2008
dbSNP: rs1801273
rs1801273
3 0.925 0.200 2 88126256 missense variant C/T snv 1.2E-05 2.1E-05 0.010 1.000 1 2008 2008
dbSNP: rs2108622
rs2108622
20 0.742 0.280 19 15879621 missense variant C/T snv 0.27 0.22 0.010 1.000 1 2008 2008
dbSNP: rs2536512
rs2536512
14 0.752 0.280 4 24799693 missense variant G/A;T snv 0.55 0.010 1.000 1 2008 2008
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2008 2008