Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1374154597 | 1.000 | 0.120 | 3 | 136023097 | frameshift variant | -/G | delins | 2 | |||
rs1399364791 | 0.882 | 0.240 | 12 | 55967046 | missense variant | G/A | snv | 4.0E-06 | 3 | ||
rs142836504 | 1.000 | 0.120 | 4 | 101098491 | missense variant | C/T | snv | 2.4E-04 | 8.4E-05 | 1 | |
rs1430452530 | 0.851 | 0.160 | 14 | 61721518 | missense variant | A/G | snv | 4.0E-06 | 5 | ||
rs1430937516 | 1.000 | 0.120 | 7 | 76510939 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
rs1444669684 | 0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv | 36 | |||
rs144691445 | 1.000 | 0.120 | 15 | 74180171 | missense variant | C/A;G;T | snv | 1.6E-05 | 1 | ||
rs1481868107 | 1.000 | 0.120 | 11 | 65654980 | missense variant | T/C | snv | 1 | |||
rs151341424 | 0.925 | 0.120 | 15 | 74190856 | missense variant | CC/TT | mnv | 3 | |||
rs1555457882 | 1.000 | 0.120 | 15 | 74202151 | splice region variant | TT/- | del | 1 | |||
rs1555457919 | 1.000 | 0.120 | 15 | 74202231 | frameshift variant | -/G;GG | delins | 1 | |||
rs1561927 | 0.807 | 0.280 | 8 | 128555832 | intron variant | C/T | snv | 0.65 | 6 | ||
rs1567177198 | 1.000 | 0.120 | 15 | 74181302 | frameshift variant | -/A | delins | 1 | |||
rs1569119395 | 0.925 | 0.120 | 22 | 45949926 | stop gained | G/A | snv | 2 | |||
rs1719217 | 1.000 | 0.120 | 17 | 36080352 | intron variant | T/A;G | snv | 1 | |||
rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 53 | ||
rs1800796 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 74 | ||
rs183117027 | 1.000 | 0.120 | 2 | 21004340 | missense variant | C/T | snv | 5.1E-04 | 1.9E-04 | 1 | |
rs191544901 | 0.925 | 0.240 | 1 | 155187241 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
rs2057482 | 0.701 | 0.440 | 14 | 61747130 | 3 prime UTR variant | T/C | snv | 0.84 | 0.80 | 21 | |
rs2242241 | 0.925 | 0.200 | 8 | 21909370 | missense variant | A/C | snv | 1.0E-02 | 7.9E-03 | 2 | |
rs267607096 | 1.000 | 0.120 | 15 | 74202199 | stop gained | C/T | snv | 5.6E-06 | 1 | ||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs34309238 | 1.000 | 0.120 | 19 | 14464085 | missense variant | C/A;T | snv | 4.9E-03; 4.0E-06 | 1 | ||
rs372883 | 0.827 | 0.360 | 21 | 29345416 | 3 prime UTR variant | T/C | snv | 0.53 | 5 |