Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs281865138 | 1.000 | 0.080 | 10 | 62813492 | missense variant | A/C | snv | 1 | |||
rs751448371 | 1.000 | 0.080 | 10 | 62813572 | missense variant | C/G;T | snv | 1 | |||
rs281865134 | 1.000 | 0.080 | 16 | 11553578 | missense variant | G/A;C | snv | 4.0E-06 | 1 | ||
rs281865135 | 1.000 | 0.080 | 16 | 11549720 | missense variant | G/A;T | snv | 1 | |||
rs1182353109 | 1.000 | 0.080 | 1 | 161306725 | frameshift variant | A/- | del | 7.0E-06 | 1 | ||
rs1407955132 | 1.000 | 0.080 | 1 | 161306707 | splice donor variant | C/A | snv | 1 | |||
rs1553259511 | 1.000 | 0.080 | 1 | 161305976 | frameshift variant | -/T | delins | 1 | |||
rs1553259566 | 1.000 | 0.080 | 1 | 161306349 | frameshift variant | -/CTGC | delins | 1 | |||
rs1553259651 | 1.000 | 0.080 | 1 | 161306772 | stop gained | -/TCAC | delins | 1 | |||
rs1553259663 | 1.000 | 0.080 | 1 | 161306824 | missense variant | G/C | snv | 1 | |||
rs1553259683 | 1.000 | 0.080 | 1 | 161306858 | stop gained | G/A | snv | 1 | |||
rs1558153994 | 1.000 | 0.080 | 1 | 161306745 | synonymous variant | G/A | snv | 1 | |||
rs1558154754 | 1.000 | 0.080 | 1 | 161307415 | frameshift variant | G/- | delins | 1 | |||
rs755446743 | 1.000 | 0.080 | 1 | 161305915 | inframe deletion | TCT/- | delins | 3.6E-05 | 7.0E-06 | 1 | |
rs786204119 | 1.000 | 0.080 | 1 | 161307310 | missense variant | T/C | snv | 1 | |||
rs786204215 | 1.000 | 0.080 | 1 | 161306842 | missense variant | G/A | snv | 1 | |||
rs863224449 | 1.000 | 0.080 | 1 | 161306737 | missense variant | G/A;C | snv | 1 | |||
rs1426969421 | 1.000 | 0.080 | 17 | 15260649 | splice donor variant | C/A;T | snv | 1 | |||
rs1555568475 | 1.000 | 0.080 | 17 | 15259189 | stop gained | C/T | snv | 1 | |||
rs1567704791 | 1.000 | 0.080 | 17 | 15239528 | frameshift variant | AG/- | delins | 1 | |||
rs864622678 | 1.000 | 0.080 | 17 | 15239509 | frameshift variant | CC/A | delins | 1 | |||
rs104894160 | 0.925 | 0.080 | 10 | 62813491 | missense variant | C/A | snv | 2 | |||
rs281865139 | 0.925 | 0.080 | 10 | 62813478 | missense variant | G/T | snv | 2 | |||
rs104894520 | 0.925 | 0.080 | 16 | 11553566 | missense variant | G/T | snv | 2 | |||
rs104894521 | 0.925 | 0.080 | 16 | 11553564 | missense variant | A/C | snv | 2 |