Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs150726175 | 0.776 | 0.200 | 1 | 9982630 | missense variant | G/A | snv | 7.0E-04 | 8.5E-04 | 11 | |
rs67376798 | 0.851 | 0.120 | 1 | 97082391 | missense variant | T/A | snv | 2.8E-03 | 3.3E-03 | 9 | |
rs138504221 | 0.807 | 0.280 | 17 | 80212128 | missense variant | A/G | snv | 9.6E-05 | 1.5E-04 | 9 | |
rs752914124 | 0.827 | 0.280 | 17 | 80210679 | stop gained | GGAGGTCCTTG/- | del | 8 | |||
rs4124874 | 0.851 | 0.120 | 2 | 233757013 | intron variant | T/A;G | snv | 8 | |||
rs1131692245 | 0.925 | 0.160 | 19 | 35844109 | missense variant | C/T | snv | 7 | |||
rs7311358 | 0.827 | 0.160 | 12 | 20862826 | missense variant | G/A | snv | 0.81 | 0.72 | 6 | |
rs370244148 | 0.882 | 0.160 | 1 | 112514896 | stop gained | C/A;T | snv | 1.6E-05; 1.2E-05 | 6 | ||
rs2032592 | 0.851 | 0.160 | Y | 12919473 | 3 prime UTR variant | A/G | snv | 1.6E-04 | 5 | ||
rs2244613 | 0.882 | 0.120 | 16 | 55810697 | intron variant | G/A;T | snv | 8.0E-06; 0.73 | 4 | ||
rs7548189 | 0.882 | 0.160 | 1 | 97402157 | intron variant | C/A | snv | 0.19 | 4 | ||
rs211105 | 1.000 | 11 | 18033757 | intron variant | T/G | snv | 0.19 | 4 | |||
rs1801019 | 0.882 | 0.080 | 3 | 124737895 | missense variant | G/A;C | snv | 4.0E-06; 0.19 | 4 | ||
rs3758581 | 0.925 | 0.040 | 10 | 94842866 | missense variant | A/G | snv | 0.95 | 3 | ||
rs17376848 | 0.925 | 0.040 | 1 | 97450068 | synonymous variant | A/G | snv | 5.1E-02 | 4.3E-02 | 3 | |
rs1050274678 | 0.925 | 0.040 | 21 | 45530803 | missense variant | C/T | snv | 1.1E-05 | 7.0E-06 | 3 | |
rs72552763 | 0.925 | 0.040 | 6 | 160139849 | inframe deletion | GAT/- | delins | 0.15 | 3 | ||
rs121918081 | 0.925 | 0.200 | 18 | 31595124 | missense variant | A/G | snv | 3 | |||
rs1042597 | 2 | 233618225 | missense variant | C/G;T | snv | 0.27; 4.0E-06 | 3 | ||||
rs10474485 | 1.000 | 0.040 | 5 | 76975028 | intron variant | C/A | snv | 0.26 | 2 | ||
rs35106244 | 19 | 48700572 | intron variant | C/T | snv | 0.29 | 2 | ||||
rs201253747 | 1.000 | 0.040 | 5 | 148483142 | 3 prime UTR variant | A/G | snv | 2.1E-03 | 2 | ||
rs12462111 | 19 | 48668049 | intron variant | C/T | snv | 0.33 | 2 | ||||
rs1555909961 | 1.000 | 0.080 | 21 | 18398320 | frameshift variant | AGTGC/- | del | 2 | |||
rs200748388 | 7 | 87601021 | 5 prime UTR variant | G/A | snv | 7.0E-06 | 1 |