Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2106809 | 0.827 | 0.120 | X | 15599938 | intron variant | A/G | snv | 0.19 | 8 | ||
rs397516083 | 0.851 | 0.080 | 11 | 47346379 | intron variant | C/T | snv | 2.1E-05 | 4 | ||
rs6632677 | 0.851 | 0.120 | X | 15596749 | intron variant | G/C | snv | 5.0E-03 | 4 | ||
rs36212066 | 0.882 | 0.080 | 11 | 47332275 | intron variant | AGGGAAGCCATCCAGGCTGAGAGGG/- | delins | 4.0E-03 | 8.9E-04 | 3 | |
rs1403543 | 1.000 | 0.040 | X | 116170939 | intron variant | G/A | snv | 0.48 | 2 | ||
rs201078659 | 0.925 | 0.080 | 11 | 47346380 | intron variant | G/A;C;T | snv | 3.3E-05 | 2 | ||
rs3729843 | 0.925 | 0.040 | 1 | 201367856 | intron variant | C/A;G;T | snv | 1.8E-04; 0.42 | 2 | ||
rs397515893 | 0.925 | 0.080 | 11 | 47343158 | intron variant | C/T | snv | 1.3E-05; 4.2E-06 | 7.0E-06 | 2 | |
rs3729842 | 1.000 | 0.040 | 1 | 201368042 | intron variant | A/G | snv | 0.84 | 1 | ||
rs516514 | 1.000 | 0.040 | 18 | 36681085 | intron variant | C/T | snv | 0.49 | 1 | ||
rs730881014 | 0.776 | 0.360 | 1 | 155904494 | stop gained | A/C;G;T | snv | 15 | |||
rs111033560 | 0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 | 9 | ||
rs121909374 | 0.790 | 0.120 | 11 | 47342578 | stop gained | C/A;G | snv | 1.3E-05 | 7 | ||
rs104894501 | 0.851 | 0.040 | 15 | 63044030 | stop gained | G/A;C;T | snv | 4.0E-06 | 5 | ||
rs397516005 | 0.827 | 0.120 | 11 | 47333566 | stop gained | G/A | snv | 8.4E-06 | 2.8E-05 | 5 | |
rs397516042 | 0.827 | 0.120 | 11 | 47332075 | stop gained | G/A | snv | 8.1E-06 | 7.0E-06 | 5 | |
rs573916965 | 0.827 | 0.080 | 11 | 47346297 | stop gained | C/A;T | snv | 2.5E-04 | 5 | ||
rs727504247 | 0.827 | 0.080 | 1 | 201359217 | stop gained | C/A;T | snv | 4.1E-06 | 7.0E-06 | 5 | |
rs104894368 | 0.882 | 0.080 | 12 | 110919133 | stop gained | C/A;G;T | snv | 4.0E-06; 8.0E-06; 2.0E-05 | 4 | ||
rs267607158 | 0.851 | 0.040 | 2 | 178740125 | stop gained | G/A | snv | 4 | |||
rs387907267 | 0.851 | 0.120 | 11 | 47335120 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 | 4 | |
rs397516037 | 0.851 | 0.120 | 11 | 47332189 | stop gained | G/A | snv | 8.0E-06 | 4 | ||
rs730881116 | 0.851 | 0.080 | 1 | 201359216 | stop gained | C/T | snv | 4 | |||
rs1057519051 | 0.882 | 0.200 | 5 | 132390825 | stop gained | T/G | snv | 3 | |||
rs121909377 | 0.882 | 0.080 | 11 | 47333238 | stop gained | C/A;T | snv | 4.8E-06; 1.9E-05 | 3 |