Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1240948789 | 1.000 | 0.080 | 22 | 30889607 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs73420601 | 1.000 | 0.080 | 22 | 40404316 | missense variant | G/A | snv | 1.8E-04 | 3.5E-05 | 1 | |
rs267607042 | 0.851 | 0.320 | 18 | 44951942 | missense variant | G/A;C | snv | 5 | |||
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 | |||
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 | |||
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 | |||
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 | |||
rs1064794277 | 0.827 | 0.280 | 17 | 31232832 | missense variant | G/A;C;T | snv | 5 | |||
rs137854556 | 0.827 | 0.280 | 17 | 31235729 | missense variant | G/A;C | snv | 4.0E-06 | 5 | ||
rs1555534433 | 0.827 | 0.280 | 17 | 31335032 | splice donor variant | G/A | snv | 5 | |||
rs1567847905 | 0.827 | 0.280 | 17 | 31227232 | stop gained | C/T | snv | 5 | |||
rs1567862991 | 0.827 | 0.280 | 17 | 31260481 | stop gained | C/T | snv | 5 | |||
rs137854555 | 0.925 | 0.160 | 17 | 31261810 | stop gained | G/A | snv | 2 | |||
rs267606602 | 0.925 | 0.160 | 17 | 31221842 | splice region variant | A/G | snv | 2 | |||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs121913530 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 63 |