Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs199469465 | 0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv | 50 | |||
rs180177135 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 27 | ||
rs1569509136 | 0.708 | 0.400 | X | 53647576 | splice acceptor variant | T/C | snv | 24 | |||
rs1064795104 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 17 | |||
rs1271572 | 0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv | 16 | |||
rs1057516030 | 0.807 | 0.280 | 21 | 37480785 | stop gained | -/A | delins | 14 | |||
rs1569309484 | 0.807 | 0.200 | X | 74591586 | missense variant | A/G | snv | 13 | |||
rs121907900 | 0.763 | 0.200 | 11 | 32392020 | missense variant | G/A | snv | 11 | |||
rs137852569 | 0.752 | 0.320 | X | 67686030 | missense variant | G/A | snv | 9.4E-06 | 10 | ||
rs1057518944 | 0.807 | 0.280 | 5 | 36984990 | frameshift variant | CT/- | delins | 9 | |||
rs1555706928 | 0.851 | 0.240 | 18 | 44951954 | missense variant | G/A | snv | 8 | |||
rs132630297 | 0.925 | 0.280 | X | 134425256 | stop gained | C/A;T | snv | 6 | |||
rs1565286228 | 0.807 | 0.200 | 11 | 61766173 | frameshift variant | GCACCGGGCCCCCCATC/T | delins | 6 | |||
rs1037084691 | 0.827 | 0.160 | 11 | 32392031 | missense variant | C/G;T | snv | 5 | |||
rs1085307132 | 0.882 | 0.160 | 8 | 143817668 | frameshift variant | -/TTTT | delins | 5 | |||
rs1565308384 | 0.827 | 0.200 | 11 | 61784321 | frameshift variant | -/A | delins | 5 | |||
rs1057517779 | 0.851 | 0.160 | 9 | 124493083 | missense variant | G/A | snv | 4 | |||
rs121918508 | 0.851 | 0.360 | 10 | 121488035 | missense variant | C/T | snv | 4 | |||
rs2069521 | 0.851 | 0.240 | 15 | 74746626 | upstream gene variant | G/A | snv | 4.9E-02 | 4 | ||
rs6785358 | 0.882 | 0.200 | 3 | 30602723 | upstream gene variant | G/A | snv | 0.84 | 4 | ||
rs1020397 | 0.882 | 0.160 | 15 | 80426396 | intron variant | G/C;T | snv | 3 | |||
rs2278705 | 0.882 | 0.160 | 15 | 80402288 | intron variant | C/T | snv | 4.2E-02 | 3 | ||
rs2472680 | 0.882 | 0.160 | 3 | 119808929 | intron variant | T/C | snv | 0.90 | 3 | ||
rs3757824 | 0.882 | 0.160 | 7 | 17296411 | non coding transcript exon variant | T/C;G | snv | 3 | |||
rs5000770 | 0.882 | 0.160 | 15 | 80424141 | intron variant | G/A | snv | 0.27 | 3 |