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: rs1009298200
rs1009298200
34 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1010184002
rs1010184002
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1057518789
rs1057518789
2 0.925 0.040 16 3728803 stop gained G/A snv 0.700 0
dbSNP: rs1057518812
rs1057518812
6 0.827 0.240 15 48430742 missense variant T/A snv 0.700 0
dbSNP: rs1057518828
rs1057518828
1 1.000 0.040 17 44911317 missense variant T/G snv 0.700 0
dbSNP: rs1057518891
rs1057518891
6 0.851 0.120 8 60854479 stop gained C/T snv 0.700 0
dbSNP: rs1057518908
rs1057518908
6 0.882 0.120 12 47984112 missense variant C/T snv 0.700 0
dbSNP: rs1057520063
rs1057520063
13 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
dbSNP: rs1060505041
rs1060505041
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
dbSNP: rs1064793575
rs1064793575
6 0.925 0.040 X 136016706 frameshift variant GT/- delins 0.700 0
dbSNP: rs1085307132
rs1085307132
5 0.882 0.160 8 143817668 frameshift variant -/TTTT delins 0.700 0
dbSNP: rs1085308004
rs1085308004
9 0.807 0.240 15 48425420 missense variant A/G snv 0.700 0
dbSNP: rs1085308052
rs1085308052
5 0.851 0.160 10 87952144 frameshift variant -/T delins 0.700 0
dbSNP: rs112550005
rs112550005
18 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
dbSNP: rs113422242
rs113422242
14 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs113871094
rs113871094
34 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
dbSNP: rs1163944538
rs1163944538
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1178187217
rs1178187217
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs121908188
rs121908188
25 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
dbSNP: rs1232880706
rs1232880706
36 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
dbSNP: rs1350968647
rs1350968647
5 0.851 0.080 17 10642825 splice donor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1364709483
rs1364709483
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
dbSNP: rs137854466
rs137854466
23 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
dbSNP: rs140119177
rs140119177
7 0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04 0.700 0