Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519279 | 1.000 | 19 | 35720980 | stop gained | C/T | snv | 3 | ||||
rs1057519281 | 1.000 | 19 | 35721775 | stop gained | C/T | snv | 3 | ||||
rs137852968 | 0.925 | 0.080 | 20 | 3916955 | stop gained | C/A;T | snv | 4.0E-06; 1.2E-05; 3.6E-05 | 3 | ||
rs121434410 | 1.000 | 0.040 | 2 | 178436264 | missense variant | G/A | snv | 9.9E-05 | 9.1E-05 | 3 | |
rs1554504684 | 1.000 | 8 | 23007711 | missense variant | G/A | snv | 3 | ||||
rs121917762 | 0.925 | 0.040 | 11 | 2165727 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 3 | ||
rs771610752 | 0.925 | 0.040 | 11 | 2168614 | stop gained | G/A | snv | 6.2E-05 | 2.1E-05 | 3 | |
rs80338892 | 1.000 | 0.040 | 11 | 2167905 | missense variant | C/T | snv | 1.1E-04 | 1.4E-04 | 3 | |
rs796065306 | 1.000 | 0.080 | 3 | 123319754 | missense variant | C/T | snv | 4 | |||
rs864309484 | 1.000 | 0.080 | 3 | 123291354 | missense variant | A/T | snv | 4 | |||
rs760743322 | 1.000 | 0.040 | 21 | 25975997 | missense variant | T/C | snv | 4.0E-06 | 4 | ||
rs1566658823 | 1.000 | 0.120 | 14 | 54844138 | missense variant | A/G | snv | 4 | |||
rs531630376 | 1.000 | 0.080 | 5 | 141955844 | stop gained | C/A | snv | 4.0E-06 | 4 | ||
rs1553547838 | 0.925 | 0.280 | 2 | 199328709 | stop gained | G/A | snv | 4 | |||
rs374512193 | 0.925 | 0.120 | 8 | 42838177 | missense variant | T/C | snv | 5.2E-05 | 5.6E-05 | 4 | |
rs1269252748 | 9 | 2641436 | missense variant | C/T | snv | 4 | |||||
rs1447313633 | 1.000 | 2 | 218649090 | frameshift variant | TT/- | del | 4 | ||||
rs1559296368 | 1.000 | 2 | 218646330 | frameshift variant | C/- | del | 4 | ||||
rs397514477 | 0.925 | 0.080 | 19 | 29708415 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 5 | |
rs267606695 | 1.000 | 0.160 | 8 | 60266044 | missense variant | A/C;G | snv | 5 | |||
rs879253799 | 0.882 | 0.320 | 2 | 171443559 | frameshift variant | A/- | delins | 5 | |||
rs113994063 | 0.882 | 0.160 | 3 | 184140517 | missense variant | C/G;T | snv | 1.6E-05 | 2.8E-05 | 5 | |
rs1114167290 | 0.882 | 0.080 | 15 | 52340235 | missense variant | G/C | snv | 5 | |||
rs121908683 | 0.925 | 0.080 | 22 | 38115667 | missense variant | G/A | snv | 9.0E-06 | 2.1E-05 | 5 | |
rs869025221 | 0.925 | 0.080 | 3 | 25593603 | missense variant | G/C | snv | 5 |