Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs112543062 | 0.851 | 0.280 | 12 | 101770161 | missense variant | T/C;G | snv | 1.2E-05 | 6 | ||
rs1060499679 | 0.851 | 0.280 | 12 | 101770496 | inframe deletion | GTG/- | delins | 5 | |||
rs736707 | 0.851 | 0.040 | 7 | 103489956 | intron variant | A/G | snv | 0.30 | 6 | ||
rs7341475 | 0.851 | 0.240 | 7 | 103764368 | intron variant | G/A | snv | 0.17 | 6 | ||
rs1561515242 | 1.000 | 0.080 | 5 | 111482938 | splice donor variant | G/A | snv | 6 | |||
rs4938723 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 60 | ||
rs1800497 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 56 | |
rs6277 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 36 | |
rs1801028 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 24 | |
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs6318 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 42 | |||
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 | |
rs1224426272 | 0.925 | 0.040 | 12 | 119869138 | missense variant | C/T | snv | 6 | |||
rs1554776954 | 1.000 | 9 | 127661133 | frameshift variant | A/- | delins | 5 | ||||
rs28939688 | 0.807 | 0.040 | 10 | 13109270 | missense variant | G/A | snv | 7 | |||
rs1555103646 | 1.000 | 0.040 | 12 | 13569964 | missense variant | C/A | snv | 4 | |||
rs1555103652 | 0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv | 11 | |||
rs2074898 | 1.000 | 0.040 | 19 | 1391362 | intron variant | A/C;G | snv | 3 | |||
rs886041097 | 0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv | 9 | |||
rs27072 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 11 | |||
rs40184 | 0.851 | 0.120 | 5 | 1394962 | intron variant | C/T | snv | 0.45 | 5 | ||
rs41423247 | 0.695 | 0.440 | 5 | 143399010 | intron variant | G/C | snv | 0.31 | 23 | ||
rs550659379 | 0.882 | 0.160 | 5 | 143399780 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 5 | |
rs375382379 | 0.882 | 0.160 | 5 | 143399792 | missense variant | T/C | snv | 4.0E-06 | 5 |