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: rs1057518868
rs1057518868
3 0.925 0.080 16 86510849 missense variant A/T snv 0.700 0
dbSNP: rs1057518914
rs1057518914
14 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
dbSNP: rs1114167294
rs1114167294
4 0.925 6 41587455 frameshift variant T/- del 0.700 0
dbSNP: rs1163944538
rs1163944538
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs121918455
rs121918455
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
dbSNP: rs1294950721
rs1294950721
27 0.807 0.360 20 10645355 splice donor variant C/A;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: rs142239530
rs142239530
24 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
dbSNP: rs143044921
rs143044921
8 0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03 0.700 0
dbSNP: rs1554643168
rs1554643168
7 0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 0.700 0
dbSNP: rs1555038029
rs1555038029
12 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
dbSNP: rs1555226315
rs1555226315
4 0.925 0.120 12 114398639 stop gained C/T snv 0.700 0
dbSNP: rs1555564126
rs1555564126
9 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
dbSNP: rs1555565774
rs1555565774
16 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
dbSNP: rs1557612048
rs1557612048
11 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
dbSNP: rs1564062144
rs1564062144
7 1.000 9 83972190 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1565569158
rs1565569158
4 12 6939148 missense variant A/G snv 0.700 0
dbSNP: rs180177039
rs180177039
12 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 0
dbSNP: rs431905509
rs431905509
8 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.700 0
dbSNP: rs483352822
rs483352822
16 0.776 0.360 1 155904470 stop lost C/A;G;T snv 0.700 0
dbSNP: rs61729366
rs61729366
6 0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 0.700 0
dbSNP: rs746800707
rs746800707
8 0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs755246809
rs755246809
7 0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05 0.700 0
dbSNP: rs759125480
rs759125480
16 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs912001256
rs912001256
17 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0