Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | |
rs1269636220 | 0.851 | 0.280 | 10 | 120865109 | missense variant | A/G | snv | 5 | |||
rs1306416169 | 0.851 | 0.280 | 9 | 137453808 | missense variant | C/T | snv | 5 | |||
rs886039813 | 0.827 | 0.160 | X | 13756600 | frameshift variant | C/- | delins | 8 | |||
rs797044484 | 0.776 | 0.400 | 3 | 189868624 | missense variant | C/G | snv | 10 | |||
rs2235371 | 0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 | 11 | |
rs2235375 | 0.807 | 0.400 | 1 | 209792242 | intron variant | G/A;C;T | snv | 3.2E-05; 0.41; 4.3E-04 | 7 | ||
rs642961 | 0.732 | 0.440 | 1 | 209815925 | intergenic variant | A/G | snv | 0.84 | 14 | ||
rs201002930 | 0.827 | 0.200 | 2 | 218889997 | synonymous variant | C/T | snv | 3.2E-05 | 7.0E-06 | 6 | |
rs739439 | 0.851 | 0.200 | 17 | 28396803 | 3 prime UTR variant | C/T | snv | 0.13 | 5 | ||
rs2239907 | 0.851 | 0.200 | 17 | 28398728 | 3 prime UTR variant | T/C | snv | 0.53 | 5 | ||
rs10719 | 0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 | 24 | ||
rs493760 | 0.851 | 0.200 | 5 | 31436933 | intron variant | C/T | snv | 0.74 | 5 | ||
rs2269529 | 0.851 | 0.200 | 22 | 36288308 | missense variant | T/C | snv | 0.26 | 0.18 | 5 | |
rs397515445 | 0.807 | 0.280 | 8 | 38414263 | missense variant | T/C | snv | 7 | |||
rs13041247 | 0.851 | 0.200 | 20 | 40640434 | regulatory region variant | T/C | snv | 0.36 | 5 | ||
rs1553155986 | 0.827 | 0.280 | 1 | 42929008 | missense variant | C/T | snv | 6 | |||
rs3821949 | 1.000 | 0.080 | 4 | 4858675 | upstream gene variant | G/A | snv | 0.32 | 2 | ||
rs3775261 | 1.000 | 0.080 | 4 | 4862018 | intron variant | C/A | snv | 0.30 | 2 | ||
rs12532 | 0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 | 10 | ||
rs17563 | 0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 | 8 | |
rs10130587 | 0.851 | 0.200 | 14 | 53952392 | intron variant | G/C | snv | 0.45 | 5 | ||
rs16260 | 0.716 | 0.440 | 16 | 68737131 | upstream gene variant | C/A | snv | 0.24 | 19 | ||
rs11362 | 0.742 | 0.360 | 8 | 6877877 | 5 prime UTR variant | C/T | snv | 0.43 | 0.40 | 13 |