Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121918394 | 0.882 | 0.080 | 19 | 44908786 | missense variant | A/C;G | snv | 6.5E-06 | 5 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs10757278 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 44 | ||
rs9349379 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 19 | ||
rs2228262 | 0.763 | 0.200 | 15 | 39589977 | missense variant | A/G | snv | 7.9E-02 | 8.0E-02 | 10 | |
rs2066808 | 0.807 | 0.280 | 12 | 56344189 | intron variant | A/G | snv | 0.21 | 8 | ||
rs150016118 | 0.882 | 0.120 | 11 | 74006339 | missense variant | A/G | snv | 1.7E-05 | 6.3E-05 | 6 | |
rs40837 | 0.925 | 0.120 | 16 | 28499524 | 3 prime UTR variant | A/G | snv | 0.43 | 5 | ||
rs5888 | 0.752 | 0.200 | 12 | 124800202 | synonymous variant | A/G;T | snv | 0.59; 4.0E-06 | 11 | ||
rs3869109 | 0.851 | 0.160 | 6 | 31216419 | intergenic variant | A/G;T | snv | 5 | |||
rs187238 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 48 | |||
rs35385902 | 0.807 | 0.240 | 4 | 99347122 | missense variant | C/A;T | snv | 2.0E-05; 1.1E-03 | 9 | ||
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 88 | |
rs761646500 | 0.925 | 0.080 | 6 | 169237763 | missense variant | C/G | snv | 4.0E-06 | 3 | ||
rs1458766475 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 41 | ||
rs730880284 | 1 | 169612928 | splice donor variant | C/G;T | snv | 2.8E-05 | 1 | ||||
rs646776 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 25 | ||
rs2230806 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 24 | |
rs659366 | 0.724 | 0.520 | 11 | 73983709 | non coding transcript exon variant | C/T | snv | 0.40 | 17 | ||
rs7044343 | 0.752 | 0.520 | 9 | 6254208 | intron variant | C/T | snv | 0.51 | 13 | ||
rs2026458 | 0.882 | 0.080 | 6 | 12825642 | intron variant | C/T | snv | 0.34 | 6 | ||
rs1275805226 | 0.776 | 0.240 | 1 | 230706148 | frameshift variant | G/- | del | 7.0E-06 | 12 | ||
rs72653706 | 0.695 | 0.480 | 16 | 16163078 | stop gained | G/A | snv | 1.4E-03 | 1.2E-03 | 32 |