Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs886041347 | 0.790 | 0.320 | 17 | 31229061 | stop gained | C/T | snv | 13 | |||
rs397514641 | 0.827 | 0.320 | 17 | 31169985 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 11 | |
rs137854550 | 0.790 | 0.360 | 17 | 31258500 | missense variant | A/C;G | snv | 10 | |||
rs1555535032 | 0.882 | 0.120 | 17 | 31338734 | frameshift variant | TTAC/- | delins | 9 | |||
rs137854552 | 0.807 | 0.280 | 17 | 31334927 | stop gained | C/T | snv | 7 | |||
rs772295894 | 0.807 | 0.280 | 17 | 31338739 | stop gained | C/A;G | snv | 4.0E-06 | 7 | ||
rs786202112 | 0.827 | 0.280 | 17 | 31327839 | missense variant | G/A | snv | 7 | |||
rs866445127 | 0.851 | 0.240 | 17 | 31352348 | stop gained | C/T | snv | 7 | |||
rs1131691073 | 0.827 | 0.280 | 17 | 31340553 | stop gained | C/T | snv | 6 | |||
rs1131691075 | 0.827 | 0.280 | 17 | 31235773 | splice donor variant | G/A;T | snv | 6 | |||
rs768638173 | 0.882 | 0.200 | 17 | 31226474 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 6 | |
rs771529172 | 0.827 | 0.280 | 17 | 31327719 | missense variant | G/A;C;T | snv | 6 | |||
rs778405030 | 0.827 | 0.280 | 17 | 31206297 | stop gained | C/T | snv | 8.0E-06; 4.0E-06 | 6 | ||
rs786201367 | 0.827 | 0.280 | 17 | 31357308 | stop gained | C/T | snv | 6 | |||
rs786203896 | 0.827 | 0.280 | 17 | 31330468 | stop gained | G/T | snv | 6 | |||
rs876660696 | 0.827 | 0.280 | 17 | 31335016 | stop gained | G/A | snv | 6 | |||
rs1057518904 | 0.882 | 0.240 | 17 | 31221932 | missense variant | A/G | snv | 5 | |||
rs760703505 | 0.882 | 0.200 | 17 | 31261733 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 5 | |
rs786202457 | 0.882 | 0.120 | 17 | 31350209 | stop gained | C/T | snv | 5 | |||
rs267606600 | 1.000 | 0.120 | 17 | 31219018 | frameshift variant | AG/- | del | 1.4E-05 | 4 | ||
rs267606606 | 0.882 | 0.240 | 17 | 31229954 | inframe deletion | AAT/- | del | 4.0E-06 | 4 | ||
rs876657714 | 0.882 | 0.200 | 17 | 31327535 | stop gained | C/T | snv | 4 | |||
rs1060500376 | 0.925 | 0.240 | 17 | 31337881 | splice donor variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 3 | ||
rs137854563 | 0.925 | 0.120 | 17 | 31201044 | missense variant | T/C;G | snv | 3 | |||
rs1555534379 | 1.000 | 0.120 | 17 | 31334856 | frameshift variant | T/- | delins | 3 |