Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs473543 | 0.925 | 0.080 | 6 | 106327811 | upstream gene variant | A/C;G | snv | 2 | |||
rs552752779 | 0.925 | 0.080 | 17 | 61784427 | splice region variant | A/C;G | snv | 4.0E-06; 2.1E-04 | 2 | ||
rs17217772 | 0.790 | 0.240 | 2 | 47410107 | missense variant | A/C;G;T | snv | 5.8E-03 | 10 | ||
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs3803662 | 0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 | 25 | ||
rs10771399 | 0.827 | 0.080 | 12 | 28002147 | intergenic variant | A/G | snv | 8.9E-02 | 5 | ||
rs1064793184 | 0.851 | 0.080 | 2 | 47791055 | missense variant | A/G | snv | 4 | |||
rs1485579458 | 0.851 | 0.080 | 17 | 39723921 | missense variant | A/G | snv | 4.0E-06 | 4 | ||
rs780439043 | 0.925 | 0.080 | 7 | 55205301 | missense variant | A/G | snv | 8.0E-06 | 1.4E-05 | 3 | |
rs2491231 | 0.925 | 0.080 | 13 | 28036046 | splice region variant | A/G | snv | 0.71 | 0.61 | 2 | |
rs718282 | 0.925 | 0.080 | 7 | 152638744 | intergenic variant | A/G | snv | 0.94 | 2 | ||
rs1219648 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 17 | |||
rs184967 | 0.925 | 0.080 | 5 | 80854162 | missense variant | A/G;T | snv | 0.87 | 2 | ||
rs80350973 | 0.925 | 0.080 | 2 | 52252219 | intron variant | A/T | snv | 2.1E-05 | 2 | ||
rs8176318 | 0.807 | 0.120 | 17 | 43045257 | 3 prime UTR variant | C/A | snv | 0.34 | 0.29 | 6 | |
rs28934576 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 78 | ||
rs11540652 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 57 | ||
rs3212986 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 42 | ||
rs144567652 | 0.776 | 0.200 | 14 | 45198718 | stop gained | C/A;T | snv | 4.0E-06; 1.0E-03 | 8 | ||
rs4986850 | 0.851 | 0.080 | 17 | 43093454 | missense variant | C/A;T | snv | 5.8E-02 | 4 | ||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs527616 | 0.851 | 0.080 | 18 | 26757460 | intron variant | C/G | snv | 0.71 | 4 | ||
rs7250266 | 0.925 | 0.080 | 19 | 17266803 | intron variant | C/G | snv | 8.5E-02 | 2 | ||
rs769772228 | 0.925 | 0.080 | 2 | 136115346 | missense variant | C/G | snv | 2.0E-05 | 4.9E-05 | 2 | |
rs3218536 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 37 |