Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs769603301 | 16 | 72811684 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 1 | ||||
rs1565798439 | 12 | 71610513 | missense variant | A/G | snv | 1 | |||||
rs767539150 | 12 | 71656953 | missense variant | C/T | snv | 1.8E-04 | 1.7E-04 | 1 | |||
rs1333906033 | 22 | 49883834 | stop gained | C/T | snv | 4.0E-06 | 1 | ||||
rs1339616347 | 0.925 | 0.120 | 8 | 31068328 | splice donor variant | G/T | snv | 6 | |||
rs150300426 | 3 | 49014077 | missense variant | G/A | snv | 3.6E-05 | 1.4E-05 | 1 | |||
rs537353127 | 11 | 61273265 | stop gained | G/A;C;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 1 | ||||
rs386834061 | 0.925 | 0.360 | 8 | 99868312 | stop gained | C/T | snv | 2.1E-05 | 10 | ||
rs1057518939 | 1.000 | 0.040 | 8 | 99511424 | frameshift variant | A/- | del | 9 | |||
rs141844660 | 6 | 99443648 | stop gained | C/A | snv | 1.3E-04 | 1.2E-04 | 1 | |||
rs1562391520 | 6 | 99482871 | missense variant | C/T | snv | 1 | |||||
rs1562456317 | 6 | 99508705 | missense variant | A/C | snv | 1 | |||||
rs1557523211 | 1 | 55073913 | splice region variant | G/A | snv | 1 | |||||
rs80338903 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 25 | |
rs144709443 | 1 | 19155051 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |||
rs747867083 | 1 | 19119624 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs748323629 | 1 | 19151825 | missense variant | T/C | snv | 8.0E-06 | 2.8E-05 | 1 | |||
rs761960636 | 1 | 19094058 | missense variant | G/T | snv | 3.2E-05 | 1 | ||||
rs776593168 | 1 | 19167086 | missense variant | G/A;C | snv | 1.2E-05; 1.2E-05 | 1 | ||||
rs181109321 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 15 | ||
rs1562308994 | 6 | 99446205 | missense variant | T/C | snv | 1 | |||||
rs1057518791 | 0.925 | 0.120 | 8 | 115604739 | stop gained | C/T | snv | 7 | |||
rs199474657 | 0.752 | 0.360 | MT | 3243 | non coding transcript exon variant | A/G | snv | 15 | |||
rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 | |||
rs1400419650 | 0.708 | 0.320 | 14 | 92005938 | stop gained | C/A;T | snv | 4.0E-06 | 1.4E-05 | 38 |