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: rs1057518874
rs1057518874
4 15 44598738 missense variant C/A snv 0.700 0
dbSNP: rs773690764
rs773690764
4 11 68917781 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1555889127
rs1555889127
6 1.000 0.040 20 49374625 missense variant C/T snv 0.700 0
dbSNP: rs201892814
rs201892814
8 1.000 0.040 15 42403721 intron variant C/G snv 3.1E-03; 2.4E-05 3.1E-03 0.700 0
dbSNP: rs1057518849
rs1057518849
4 0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121909112
rs121909112
7 0.882 0.080 7 76303855 missense variant C/G snv 0.700 0
dbSNP: rs143003434
rs143003434
7 1.000 0.080 2 32098840 missense variant G/A snv 3.2E-05 3.5E-05 0.700 0
dbSNP: rs201689565
rs201689565
5 1.000 0.080 15 44584299 missense variant A/G snv 4.8E-05 1.0E-04 0.700 0
dbSNP: rs1057518943
rs1057518943
5 1.000 0.120 11 68906163 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs1553521119
rs1553521119
5 0.925 0.120 2 71513892 frameshift variant C/- del 0.700 0
dbSNP: rs312262720
rs312262720
5 0.882 0.120 15 44657230 frameshift variant AT/- del 4.9E-05 0.700 0
dbSNP: rs758058910
rs758058910
3 1.000 0.120 15 42360096 missense variant C/A;T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs778768583
rs778768583
10 0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 0.700 0
dbSNP: rs781565158
rs781565158
22 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
dbSNP: rs80338800
rs80338800
21 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
dbSNP: rs886042108
rs886042108
10 0.851 0.120 15 42409930 splice acceptor variant G/C;T snv 0.700 0
dbSNP: rs1565930588
rs1565930588
19 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
dbSNP: rs142433332
rs142433332
14 0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 0.700 0
dbSNP: rs1553201258
rs1553201258
14 0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 0.700 0
dbSNP: rs28937900
rs28937900
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs368900406
rs368900406
27 0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs747900252
rs747900252
6 0.925 0.160 21 46125776 intron variant G/A snv 1.1E-04 7.7E-05 0.700 0
dbSNP: rs1554781700
rs1554781700
12 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
dbSNP: rs1555103652
rs1555103652
11 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
dbSNP: rs267607261
rs267607261
28 0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 0.700 0