Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1424665740 | 0.925 | 0.040 | 13 | 103066068 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs6478317 | 0.882 | 0.120 | 9 | 117701903 | upstream gene variant | G/A | snv | 3 | |||
rs1927911 | 0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 | 28 | ||
rs11536889 | 0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 | 27 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs7091672 | 0.925 | 0.040 | 10 | 118836909 | intron variant | T/A;C;G | snv | 2 | |||
rs1326123837 | 0.925 | 0.040 | 11 | 119025310 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
rs782692832 | 0.925 | 0.040 | 11 | 119026688 | missense variant | C/T | snv | 4.6E-06 | 2 | ||
rs193302889 | 0.882 | 0.120 | 11 | 119029289 | missense variant | A/T | snv | 8.0E-06 | 3 | ||
rs1556620697 | 0.827 | 0.360 | X | 124365758 | splice region variant | C/G | snv | 10 | |||
rs1801019 | 0.882 | 0.080 | 3 | 124737895 | missense variant | G/A;C | snv | 4.0E-06; 0.19 | 4 | ||
rs4645948 | 0.882 | 0.160 | 8 | 127736252 | synonymous variant | C/T | snv | 2.8E-02 | 3 | ||
rs759191907 | 0.776 | 0.360 | 9 | 127825225 | splice region variant | A/G | snv | 8.0E-06 | 25 | ||
rs2228075 | 1.000 | 0.040 | 7 | 128394575 | synonymous variant | C/A;G;T | snv | 0.27 | 1 | ||
rs2278294 | 0.882 | 0.080 | 7 | 128400645 | non coding transcript exon variant | C/T | snv | 0.38 | 3 | ||
rs2032592 | 0.851 | 0.160 | Y | 12919473 | 3 prime UTR variant | A/G | snv | 1.6E-04 | 5 | ||
rs1800925 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 37 | |||
rs1460631883 | 0.882 | 0.120 | 10 | 133420041 | missense variant | T/C | snv | 8.0E-06 | 3 | ||
rs1901440 | 0.925 | 0.040 | 2 | 133680388 | intergenic variant | C/A | snv | 0.58 | 2 | ||
rs931572188 | 1.000 | 0.040 | 11 | 134256593 | missense variant | C/A;G;T | snv | 4.0E-06 | 1 | ||
rs104893624 | 0.851 | 0.200 | 2 | 136114928 | stop gained | G/A | snv | 4 | |||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs2228000 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 53 |