Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553920379 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 27 | |||
rs1553511224 | 0.882 | 0.080 | 2 | 161423825 | frameshift variant | -/C | delins | 10 | |||
rs1569146993 | 0.851 | 0.320 | 22 | 42211700 | frameshift variant | -/C | delins | 5 | |||
rs1555639411 | 0.790 | 0.360 | 17 | 67894102 | frameshift variant | -/G | delins | 10 | |||
rs1555043939 | 0.851 | 0.240 | 11 | 118496323 | frameshift variant | -/G | delins | 9 | |||
rs78300695 | 0.882 | 0.200 | 3 | 48466711 | frameshift variant | -/G | delins | 2.1E-05 | 8 | ||
rs1561498701 | 1.000 | 0.080 | 5 | 70925150 | frameshift variant | -/GGATTCCG | delins | 5 | |||
rs1562203136 | 0.882 | 0.120 | 6 | 79042902 | frameshift variant | -/T | ins | 9 | |||
rs1554558365 | 0.925 | 0.120 | 8 | 93804851 | inframe insertion | -/TATGAA | delins | 4 | |||
rs775835429 | 0.925 | 0.040 | 2 | 227702236 | frameshift variant | -/TC | delins | 2.4E-05 | 2.1E-05 | 4 | |
rs1562114190 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 21 | |||
rs1555639076 | 0.790 | 0.400 | 17 | 67893677 | splice donor variant | A/- | delins | 16 | |||
rs1555640521 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 15 | |||
rs794727931 | 0.790 | 0.240 | 11 | 78112692 | missense variant | A/C | snv | 19 | |||
rs1057524157 | 0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv | 19 | |||
rs1276519904 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 63 | |||
rs80338945 | 0.695 | 0.440 | 13 | 20189313 | missense variant | A/G | snv | 6.4E-04 | 6.4E-04 | 32 | |
rs12720458 | 0.716 | 0.240 | 11 | 2585264 | missense variant | A/G | snv | 4.0E-05 | 1.4E-05 | 20 | |
rs1555497604 | 0.851 | 0.240 | 16 | 23452993 | start lost | A/G | snv | 10 | |||
rs1057519443 | 0.882 | 0.200 | 2 | 201675255 | missense variant | A/G | snv | 7 | |||
rs145999922 | 0.882 | 0.040 | 2 | 227699378 | missense variant | A/G | snv | 4.4E-05 | 4.2E-05 | 4 | |
rs749895856 | 0.925 | 0.160 | 1 | 53211110 | missense variant | A/G;T | snv | 1.2E-05; 4.0E-05 | 7 | ||
rs1553525325 | 0.807 | 0.120 | 2 | 166002716 | missense variant | A/T | snv | 9 | |||
rs1562927768 | 0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins | 15 | |||
rs878855331 | 0.925 | 0.120 | 11 | 6617319 | splice donor variant | AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- | delins | 5 |