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: rs1057518345
rs1057518345
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
dbSNP: rs1057518681
rs1057518681
7 0.827 0.200 8 143816821 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057518914
rs1057518914
14 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
dbSNP: rs1057519381
rs1057519381
6 0.851 0.240 X 71124276 missense variant G/A snv 0.700 0
dbSNP: rs112550005
rs112550005
18 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
dbSNP: rs1135402761
rs1135402761
11 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
dbSNP: rs121908425
rs121908425
14 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
dbSNP: rs121918130
rs121918130
18 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
dbSNP: rs121918487
rs121918487
25 0.716 0.440 10 121517378 missense variant C/A;G;T snv 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: rs1481733213
rs1481733213
ATR
5 0.851 0.240 3 142568059 splice region variant T/C snv 0.700 0
dbSNP: rs1553370918
rs1553370918
6 0.851 0.360 2 15945602 frameshift variant TG/- delins 0.700 0
dbSNP: rs1553538917
rs1553538917
7 0.882 0.120 2 199272423 stop gained G/A snv 0.700 0
dbSNP: rs1553621496
rs1553621496
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs1553655558
rs1553655558
43 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
dbSNP: rs1553761113
rs1553761113
ATR
5 0.851 0.240 3 142507967 missense variant C/A snv 0.700 0
dbSNP: rs1554208945
rs1554208945
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs1555398673
rs1555398673
7 0.807 0.200 15 48488433 missense variant A/G snv 0.700 0
dbSNP: rs1555565774
rs1555565774
16 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
dbSNP: rs1555731819
rs1555731819
26 0.807 0.200 19 35729980 missense variant G/T snv 0.700 0
dbSNP: rs1558939623
rs1558939623
19 0.732 0.480 2 174824479 missense variant C/T snv 0.700 0
dbSNP: rs1565679039
rs1565679039
45 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
dbSNP: rs1566785444
rs1566785444
20 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
dbSNP: rs1569309484
rs1569309484
13 0.807 0.200 X 74591586 missense variant A/G snv 0.700 0
dbSNP: rs1569355102
rs1569355102
51 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0