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: rs1057910
rs1057910
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121918472
rs121918472
3 0.925 0.040 3 93879306 missense variant A/C;G snv 1.2E-05; 2.0E-03 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.938 32 1999 2019
dbSNP: rs1194897557
rs1194897557
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs3917862
rs3917862
2 1.000 0.040 1 169623875 intron variant A/G snv 3.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs5743836
rs5743836
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs805297
rs805297
6 0.851 0.280 6 31654829 intron variant C/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs9923231
rs9923231
6 0.851 0.200 16 31096368 upstream gene variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs5742904
rs5742904
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.010 1.000 1 2018 2018
dbSNP: rs5985
rs5985
20 0.724 0.280 6 6318562 missense variant C/A;T snv 0.20; 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.100 0.947 19 1999 2018
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.060 1.000 6 1995 2020
dbSNP: rs763351020
rs763351020
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.030 1.000 3 2005 2009
dbSNP: rs146922325
rs146922325
5 0.851 0.160 2 127426114 missense variant C/T snv 7.5E-04 3.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs1799853
rs1799853
11 0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs200581891
rs200581891
1 1.000 0.040 2 8788791 missense variant C/T snv 2.0E-05 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs6003
rs6003
5 0.851 0.240 1 197061891 missense variant C/T snv 0.88 0.76 0.010 1.000 1 2005 2005
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.040 1.000 4 2012 2020
dbSNP: rs747418061
rs747418061
APC
10 0.807 0.200 5 112828920 missense variant G/A snv 3.2E-05 7.0E-06 0.030 1.000 3 1997 2005
dbSNP: rs552953108
rs552953108
F2
16 0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05 0.020 1.000 2 1996 1999
dbSNP: rs121918027
rs121918027
PLG
7 0.827 0.320 6 160738593 missense variant G/A snv 1.4E-03 3.5E-04 0.010 1.000 1 2013 2013
dbSNP: rs1226052130
rs1226052130
2 0.925 0.120 17 47299308 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1314498183
rs1314498183
1 1.000 0.040 1 11803469 missense variant G/A snv 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs1371086615
rs1371086615
APC
4 0.851 0.120 5 112828890 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005