Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1048369 | 0.882 | 0.160 | X | 133303309 | missense variant | G/A | snv | 0.33 | 0.38 | 4 | |
rs1062630 | 6 | 31170330 | synonymous variant | G/A | snv | 0.18 | 0.22 | 1 | |||
rs10885 | 6 | 31636814 | missense variant | C/T | snv | 0.14 | 0.17 | 1 | |||
rs10947261 | 0.882 | 0.240 | 6 | 32405455 | splice region variant | G/T | snv | 0.11 | 4 | ||
rs10947262 | 0.925 | 0.040 | 6 | 32405535 | non coding transcript exon variant | C/T | snv | 0.12 | 3 | ||
rs11229 | 0.851 | 0.280 | 6 | 31635993 | synonymous variant | A/G | snv | 0.14 | 0.17 | 6 | |
rs1161098 | 12 | 67453680 | intron variant | G/A | snv | 0.84 | 1 | ||||
rs116671518 | 4 | 107189709 | intron variant | T/C | snv | 1.9E-02 | 1 | ||||
rs12154141 | 6 | 62460168 | downstream gene variant | A/C | snv | 0.20 | 1 | ||||
rs12759054 | 1.000 | 0.040 | 1 | 233984064 | intron variant | T/A;C | snv | 3 | |||
rs138117677 | 16 | 3348899 | TF binding site variant | GGGACT/- | delins | 2.8E-02 | 1 | ||||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs200655768 | 2 | 178711222 | synonymous variant | G/A;T | snv | 1 | |||||
rs200688486 | 6 | 32621223 | regulatory region variant | -/T | delins | 1 | |||||
rs204992 | 6 | 32189131 | intron variant | G/A | snv | 0.22 | 1 | ||||
rs204994 | 0.925 | 0.120 | 6 | 32187221 | non coding transcript exon variant | C/T | snv | 0.18 | 0.21 | 4 | |
rs204995 | 1.000 | 0.120 | 6 | 32186508 | non coding transcript exon variant | A/G | snv | 0.21 | 0.27 | 2 | |
rs204999 | 0.763 | 0.480 | 6 | 32142202 | intergenic variant | A/G | snv | 0.28 | 13 | ||
rs2153486 | 14 | 87737048 | intron variant | C/T | snv | 0.68 | 1 | ||||
rs2213585 | 1.000 | 0.040 | 6 | 32445373 | downstream gene variant | G/A | snv | 0.61 | 2 | ||
rs2213586 | 1.000 | 0.040 | 6 | 32445317 | downstream gene variant | A/G | snv | 0.61 | 2 | ||
rs2227139 | 0.925 | 0.160 | 6 | 32445682 | downstream gene variant | G/A | snv | 0.61 | 4 | ||
rs2239802 | 0.882 | 0.200 | 6 | 32444069 | intron variant | C/A;G;T | snv | 4 | |||
rs2239803 | 0.882 | 0.240 | 6 | 32444056 | intron variant | C/A;T | snv | 0.50 | 4 | ||
rs2239804 | 0.851 | 0.240 | 6 | 32443746 | intron variant | T/A;C | snv | 0.51 | 5 |