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: rs1057524157
rs1057524157
19 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
dbSNP: rs1057519565
rs1057519565
9 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs151344517
rs151344517
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1557043622
rs1557043622
46 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1563686762
rs1563686762
16 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1009298200
rs1009298200
34 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1057518345
rs1057518345
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
dbSNP: rs1057518914
rs1057518914
14 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
dbSNP: rs1060505041
rs1060505041
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
dbSNP: rs121434341
rs121434341
10 0.807 0.360 8 60855993 missense variant C/A;T snv 0.700 0
dbSNP: rs1276519904
rs1276519904
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs1344172059
rs1344172059
12 0.882 0.080 11 17430838 missense 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: rs1553770577
rs1553770577
37 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
dbSNP: rs1553920379
rs1553920379
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs1554208945
rs1554208945
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs1554504663
rs1554504663
11 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0
dbSNP: rs1554781700
rs1554781700
12 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
dbSNP: rs1555038029
rs1555038029
12 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
dbSNP: rs1555452127
rs1555452127
34 0.742 0.400 16 5079078 missense variant T/C snv 0.700 0
dbSNP: rs1555640521
rs1555640521
15 0.790 0.320 18 6942110 frameshift variant A/- delins 0.700 0
dbSNP: rs1557781252
rs1557781252
33 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
dbSNP: rs1560755661
rs1560755661
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs1562114190
rs1562114190
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs1562127631
rs1562127631
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0