Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1559155800 | 1.000 | 0.200 | 2 | 219568150 | missense variant | C/T | snv | 7 | |||
rs965791272 | 1.000 | 0.160 | 16 | 16155041 | non coding transcript exon variant | G/A;C;T | snv | 6 | |||
rs72664203 | 1.000 | 0.160 | 16 | 16219948 | splice acceptor variant | C/G | snv | 6 | |||
rs72653777 | 1.000 | 0.160 | 16 | 16187193 | missense variant | G/A | snv | 2.8E-05 | 4.2E-05 | 6 | |
rs72653769 | 1.000 | 0.160 | 16 | 16190315 | missense variant | A/T | snv | 8.0E-06 | 6 | ||
rs1555514467 | 1.000 | 0.160 | 16 | 16188897 | frameshift variant | AG/- | delins | 6 | |||
rs749125777 | 1.000 | 0.160 | 16 | 16173287 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 | 6 | ||
rs202085145 | 1.000 | 0.080 | 12 | 56002720 | missense variant | G/T | snv | 1.0E-03 | 5.6E-04 | 6 | |
rs760187215 | 1.000 | 0.040 | 14 | 23431859 | missense variant | C/T | snv | 8.0E-06 | 6 | ||
rs1561515242 | 1.000 | 0.080 | 5 | 111482938 | splice donor variant | G/A | snv | 6 | |||
rs1568718508 | 1.000 | 0.200 | 20 | 19992201 | frameshift variant | -/C | delins | 6 | |||
rs773386777 | 1.000 | 0.160 | 12 | 88093977 | splice acceptor variant | T/C | snv | 6 | |||
rs724159950 | 1.000 | 0.200 | 21 | 37486571 | frameshift variant | TGAG/GAA | delins | 6 | |||
rs724159955 | 1.000 | 21 | 37512002 | missense variant | C/A | snv | 6 | ||||
rs1555889127 | 1.000 | 0.040 | 20 | 49374625 | missense variant | C/T | snv | 6 | |||
rs104893851 | 1.000 | 0.080 | 4 | 145639572 | stop gained | C/T | snv | 1.6E-04 | 1.7E-04 | 6 | |
rs1057518770 | 1.000 | 15 | 25354536 | missense variant | C/T | snv | 6 | ||||
rs757917335 | 1.000 | 0.120 | 2 | 71611481 | missense variant | T/C | snv | 2.0E-05 | 6 | ||
rs1565868973 | 1.000 | 0.120 | 12 | 109796650 | missense variant | A/T | snv | 6 | |||
rs121918550 | 1.000 | 0.080 | 12 | 53309624 | missense variant | A/G | snv | 1.2E-04 | 4.9E-05 | 5 | |
rs72653784 | 1.000 | 0.160 | 16 | 16182562 | missense variant | C/A;T | snv | 2.0E-05; 4.0E-06 | 5 | ||
rs1057521223 | 1.000 | 0.040 | 2 | 165373339 | stop gained | G/A;T | snv | 5 | |||
rs1057518821 | 1.000 | 1 | 42930671 | frameshift variant | -/C | delins | 5 | ||||
rs1057519439 | 1.000 | 0.120 | 2 | 195787135 | missense variant | A/G | snv | 5 | |||
rs1555366607 | 1.000 | 0.080 | 14 | 64767787 | missense variant | A/G | snv | 5 |