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: rs1561875767
rs1561875767
14 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1057519334
rs1057519334
7 0.925 0.040 9 35802550 frameshift variant C/- del 0.700 0
dbSNP: rs1057519338
rs1057519338
8 0.882 X 110264571 stop gained G/A snv 0.700 0
dbSNP: rs1060505041
rs1060505041
34 0.716 0.400 19 13136099 missense variant C/A;T 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: rs121918504
rs121918504
9 0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 0.700 0
dbSNP: rs1400419650
rs1400419650
38 0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1554700718
rs1554700718
59 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs1554888939
rs1554888939
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs1555038111
rs1555038111
37 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
dbSNP: rs1555386022
rs1555386022
38 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
dbSNP: rs1555429629
rs1555429629
23 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
dbSNP: rs1555706928
rs1555706928
8 0.851 0.240 18 44951954 missense variant G/A snv 0.700 0
dbSNP: rs1559662068
rs1559662068
10 0.925 3 9741340 frameshift variant AG/T delins 0.700 0
dbSNP: rs1565679039
rs1565679039
45 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
dbSNP: rs1566823361
rs1566823361
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs1568269273
rs1568269273
18 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
dbSNP: rs200661329
rs200661329
48 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
dbSNP: rs397516827
rs397516827
9 0.882 0.160 3 12604194 missense variant G/A;C;T snv 0.700 0
dbSNP: rs587784105
rs587784105
19 0.732 0.440 5 177235863 stop gained G/A snv 0.700 0
dbSNP: rs765498367
rs765498367
6 0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs770374710
rs770374710
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs77078070
rs77078070
26 0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs797045954
rs797045954
5 0.851 0.160 1 149923568 frameshift variant TCGAGGGGGAACTGGTGGCC/- delins 0.700 0