Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2151280 | 0.701 | 0.360 | 9 | 22034720 | non coding transcript exon variant | G/A | snv | 0.46 | 16 | ||
rs35857561 | 0.925 | 0.160 | 11 | 10628820 | missense variant | G/A | snv | 5.6E-02 | 5.0E-02 | 2 | |
rs145891889 | 1.000 | 0.120 | 17 | 31225243 | missense variant | C/T | snv | 6.0E-04 | 2.2E-03 | 1 | |
rs147955381 | 1.000 | 0.120 | 17 | 31232853 | missense variant | C/A;T | snv | 7.0E-04 | 8.1E-04 | 1 | |
rs777369021 | 1.000 | 0.120 | 17 | 31200538 | synonymous variant | T/C | snv | 8.4E-05 | 1.0E-04 | 1 | |
rs149055633 | 1.000 | 0.120 | 17 | 31352319 | missense variant | C/T | snv | 5.6E-05 | 6.3E-05 | 1 | |
rs199474740 | 1.000 | 0.120 | 17 | 31232092 | missense variant | A/G | snv | 1.2E-05 | 5.5E-05 | 1 | |
rs773647920 | 1.000 | 0.120 | 3 | 37001037 | start lost | A/G | snv | 2.4E-04 | 3.5E-05 | 5 | |
rs555635097 | 1.000 | 0.120 | 17 | 31225133 | stop gained | C/A;T | snv | 2.4E-05 | 2.8E-05 | 1 | |
rs267606600 | 1.000 | 0.120 | 17 | 31219018 | frameshift variant | AG/- | del | 1.4E-05 | 4 | ||
rs397514641 | 0.827 | 0.320 | 17 | 31169985 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 11 | |
rs199474766 | 1.000 | 0.120 | 17 | 31265317 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs768638173 | 0.882 | 0.200 | 17 | 31226474 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 6 | |
rs786202567 | 1.000 | 0.120 | 7 | 5992027 | missense variant | T/A;C | snv | 4.0E-06 | 1.4E-05 | 5 | |
rs899638423 | 1.000 | 0.120 | 5 | 87268495 | missense variant | C/T | snv | 7.1E-06 | 1 | ||
rs267606603 | 1.000 | 0.120 | 17 | 31201486 | splice donor variant | G/A;T | snv | 7.0E-06 | 1 | ||
rs587778548 | 1.000 | 0.120 | 17 | 31219026 | stop gained | G/A;T | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs876660428 | 1.000 | 0.120 | 17 | 31258476 | stop gained | G/A;T | snv | 7.0E-06 | 1 | ||
rs894292181 | 1.000 | 0.120 | 17 | 31219104 | stop gained | C/T | snv | 7.0E-06 | 2 | ||
rs1193716348 | 1.000 | 0.120 | 17 | 31337850 | stop gained | G/A | snv | 7.0E-06 | 1 | ||
rs121918457 | 0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 24 | |
rs760703505 | 0.882 | 0.200 | 17 | 31261733 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 5 | |
rs199474728 | 1.000 | 0.120 | 17 | 31159083 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
rs864622639 | 1.000 | 0.120 | 17 | 31343098 | inframe deletion | AACTTT/- | delins | 7.0E-06 | 2 | ||
rs1421234927 | 1.000 | 0.120 | 10 | 17902044 | missense variant | T/C | snv | 7.0E-06 | 1 |