Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs773970701 | 12 | 53309229 | missense variant | C/A;T | snv | 1 | |||||
rs1178773058 | 18 | 12367329 | missense variant | C/G;T | snv | 8.0E-06; 1.2E-05 | 1 | ||||
rs201817335 | 21 | 26051139 | missense variant | C/T | snv | 4.0E-06 | 1 | ||||
rs757199733 | 2 | 178799505 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 2 | |||
rs387906881 | 0.925 | 0.120 | 17 | 46935122 | missense variant | G/T | snv | 6.0E-05 | 8.4E-05 | 3 | |
rs63750634 | 0.925 | 0.120 | 14 | 73192843 | missense variant | T/G | snv | 3 | |||
rs1553948516 | 0.925 | 0.120 | 4 | 76181009 | frameshift variant | -/G | delins | 3 | |||
rs770684782 | 9 | 132288268 | stop gained | G/A | snv | 4.0E-06 | 3 | ||||
rs1569149539 | 0.925 | 0.160 | 22 | 42212712 | stop gained | G/C | snv | 3 | |||
rs760743322 | 1.000 | 0.040 | 21 | 25975997 | missense variant | T/C | snv | 4.0E-06 | 4 | ||
rs587776703 | 0.925 | 0.040 | 12 | 51806642 | frameshift variant | CT/- | del | 7.0E-06 | 4 | ||
rs1057518011 | 1 | 1535766 | missense variant | C/T | snv | 4 | |||||
rs267607134 | 0.882 | 0.080 | 9 | 129818752 | missense variant | A/T | snv | 4.8E-05 | 1.4E-04 | 4 | |
rs63750050 | 0.925 | 0.080 | 14 | 73198106 | missense variant | T/G | snv | 5 | |||
rs63751210 | 0.882 | 0.080 | 14 | 73186878 | missense variant | C/T | snv | 5 | |||
rs1057518821 | 1.000 | 1 | 42930671 | frameshift variant | -/C | delins | 5 | ||||
rs727502811 | 0.882 | 0.080 | 9 | 129814108 | missense variant | C/T | snv | 9.1E-05 | 6.3E-05 | 6 | |
rs63750599 | 0.827 | 0.160 | 14 | 73170963 | missense variant | T/C | snv | 7 | |||
rs1057516085 | 0.827 | 0.080 | 20 | 63444747 | missense variant | C/T | snv | 8 | |||
rs63750590 | 0.790 | 0.120 | 14 | 73186860 | missense variant | A/G | snv | 10 | |||
rs121918799 | 0.752 | 0.120 | 2 | 166015636 | missense variant | G/C | snv | 1.7E-03 | 1.6E-03 | 14 | |
rs771379232 | 0.790 | 0.120 | 15 | 79845338 | stop gained | G/A | snv | 2.0E-05 | 3.5E-05 | 15 | |
rs753635972 | 0.790 | 0.120 | 15 | 79845388 | missense variant | C/T | snv | 3.2E-05 | 2.1E-05 | 15 | |
rs74315408 | 0.752 | 0.280 | 20 | 4699758 | missense variant | G/A | snv | 6.4E-05 | 4.2E-05 | 16 | |
rs774277300 | 0.742 | 0.360 | 11 | 94447276 | stop gained | G/A;C;T | snv | 2.8E-05; 4.0E-05; 4.0E-06 | 17 |