Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3788533 | 0.925 | 0.040 | 22 | 38127239 | non coding transcript exon variant | C/G | snv | 0.47 | 3 | ||
rs17512836 | 0.925 | 0.040 | 18 | 55527730 | intron variant | T/C | snv | 2.2E-02 | 3 | ||
rs9960767 | 0.925 | 0.040 | 18 | 55487771 | intron variant | A/C;G | snv | 3 | |||
rs12807809 | 0.882 | 0.160 | 11 | 124736389 | upstream gene variant | T/C | snv | 0.20 | 4 | ||
rs2514218 | 0.925 | 0.040 | 11 | 113522272 | regulatory region variant | C/T | snv | 0.26 | 4 | ||
rs3916965 | 0.882 | 0.040 | 13 | 105451011 | intergenic variant | C/T | snv | 0.31 | 4 | ||
rs947267 | 0.882 | 0.040 | 13 | 105487313 | intron variant | T/G | snv | 0.51 | 4 | ||
rs4436578 | 0.925 | 0.080 | 11 | 113436043 | intron variant | C/T | snv | 0.73 | 4 | ||
rs2619538 | 0.882 | 0.040 | 6 | 15664978 | upstream gene variant | A/T | snv | 0.54 | 4 | ||
rs104894685 | 0.925 | 0.120 | 19 | 48966317 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 4 | |
rs12836771 | 0.882 | 0.080 | X | 114650913 | intron variant | A/G | snv | 0.12 | 4 | ||
rs165940 | 0.925 | 0.040 | 5 | 59383658 | intron variant | A/T | snv | 0.38 | 4 | ||
rs701428 | 1.000 | 0.040 | 22 | 20241019 | downstream gene variant | A/G | snv | 0.56 | 4 | ||
rs781720548 | 0.882 | 0.040 | 20 | 35652946 | stop gained | C/A | snv | 5 | |||
rs778294 | 0.851 | 0.040 | 13 | 105489886 | synonymous variant | C/A;T | snv | 0.27; 4.0E-06 | 0.26 | 5 | |
rs6465084 | 0.851 | 0.040 | 7 | 86774159 | intron variant | A/G | snv | 0.26 | 5 | ||
rs61749465 | 0.851 | 0.120 | 8 | 6414832 | missense variant | A/G | snv | 2.1E-03 | 1.9E-03 | 5 | |
rs3924999 | 0.851 | 0.040 | 8 | 32595840 | missense variant | G/A | snv | 0.40 | 0.31 | 5 | |
rs1039002 | 0.851 | 0.080 | 6 | 165741969 | intron variant | G/A;T | snv | 5 | |||
rs1249144069 | 0.925 | 0.200 | 10 | 3165320 | missense variant | C/T | snv | 1.4E-05 | 5 | ||
rs2958182 | 0.882 | 0.040 | 18 | 55481790 | intron variant | A/T | snv | 0.72 | 5 | ||
rs35753505 | 0.827 | 0.080 | 8 | 31616625 | intergenic variant | T/A;C | snv | 6 | |||
rs2007044 | 0.882 | 0.040 | 12 | 2235794 | intron variant | A/G | snv | 0.50 | 6 | ||
rs4765905 | 0.827 | 0.040 | 12 | 2240418 | intron variant | G/A;C | snv | 6 | |||
rs187269 | 0.827 | 0.160 | 5 | 161329618 | 3 prime UTR variant | A/G | snv | 0.34 | 6 |