Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121434578 | 1.000 | 0.080 | 16 | 8768248 | missense variant | G/A | snv | 5 | |||
rs724159990 | 1.000 | 0.080 | 16 | 8768220 | missense variant | C/T | snv | 5 | |||
rs724159992 | 1.000 | 0.080 | 16 | 8750498 | missense variant | G/A | snv | 1.4E-05 | 5 | ||
rs763028380 | 0.851 | 0.320 | 11 | 17453271 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 12 | ||
rs1131692228 | 0.925 | 0.160 | 7 | 100646637 | missense variant | C/T | snv | 5 | |||
rs1057518345 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 25 | |||
rs1131692272 | 0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv | 9 | |||
rs1554699491 | 0.763 | 0.280 | 9 | 85596450 | splice acceptor variant | C/A | snv | 23 | |||
rs780631499 | 0.763 | 0.280 | 9 | 85588465 | frameshift variant | G/- | del | 4.0E-06 | 7.0E-06 | 23 | |
rs794727931 | 0.790 | 0.240 | 11 | 78112692 | missense variant | A/C | snv | 19 | |||
rs1557612048 | 0.807 | 0.200 | 1 | 26767868 | missense variant | T/C | snv | 11 | |||
rs797045283 | 0.827 | 0.320 | 6 | 157207109 | stop gained | C/T | snv | 11 | |||
rs1057518794 | X | 25004777 | frameshift variant | TCTG/- | delins | 1 | |||||
rs377619533 | 1.000 | 18 | 33743312 | stop gained | C/A;T | snv | 2.8E-05 | 5 | |||
rs1057516032 | 1.000 | 19 | 41970211 | protein altering variant | AGTCT/GA | delins | 4 | ||||
rs867410737 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 45 | ||
rs184953805 | 0.882 | 0.200 | 3 | 48467284 | stop gained | G/A | snv | 8 | |||
rs1557106484 | X | 77633315 | missense variant | C/A | snv | 7 | |||||
rs1135401778 | 0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del | 20 | |||
rs1425998598 | 0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 | 19 | ||
rs1555639076 | 0.790 | 0.400 | 17 | 67893677 | splice donor variant | A/- | delins | 16 | |||
rs1555639411 | 0.790 | 0.360 | 17 | 67894102 | frameshift variant | -/G | delins | 10 | |||
rs1057519429 | 0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv | 15 | |||
rs1555736565 | 0.925 | 0.080 | 19 | 13230191 | missense variant | C/A;T | snv | 3 | |||
rs397514627 | 0.882 | 0.160 | 10 | 73842486 | missense variant | C/A;G | snv | 5 |