Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1315916121 | 1.000 | 0.120 | 14 | 105168390 | frameshift variant | G/- | delins | 1 | |||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs121913530 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 63 | |||
rs1561927 | 0.807 | 0.280 | 8 | 128555832 | intron variant | C/T | snv | 0.65 | 6 | ||
rs1322648460 | 0.776 | 0.320 | 11 | 35139332 | frameshift variant | G/- | delins | 9 | |||
rs1719217 | 1.000 | 0.120 | 17 | 36080352 | intron variant | T/A;G | snv | 1 | |||
rs746284240 | 0.763 | 0.240 | 12 | 68809243 | missense variant | A/G | snv | 11 | |||
rs11845046 | 1.000 | 0.120 | 14 | 39246997 | missense variant | A/G | snv | 0.22 | 0.20 | 2 | |
rs1284806277 | 0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 | 13 | ||
rs12688220 | 0.827 | 0.200 | X | 107001537 | upstream gene variant | C/T | snv | 0.19 | 5 | ||
rs1037189404 | 0.776 | 0.280 | 1 | 155187519 | missense variant | C/T | snv | 8 | |||
rs766333007 | 0.776 | 0.280 | 1 | 155192274 | missense variant | C/T | snv | 7.0E-06 | 8 | ||
rs191544901 | 0.925 | 0.240 | 1 | 155187241 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
rs763861742 | 0.925 | 0.240 | 1 | 155187268 | missense variant | C/G;T | snv | 1.2E-05 | 2 | ||
rs762581936 | 0.827 | 0.240 | 3 | 195788569 | missense variant | C/G;T | snv | 1.1E-05; 1.1E-05 | 5 | ||
rs10936599 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 32 | |
rs989461497 | 1.000 | 0.120 | 10 | 101799396 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
rs34309238 | 1.000 | 0.120 | 19 | 14464085 | missense variant | C/A;T | snv | 4.9E-03; 4.0E-06 | 1 | ||
rs1399364791 | 0.882 | 0.240 | 12 | 55967046 | missense variant | G/A | snv | 4.0E-06 | 3 | ||
rs1374154597 | 1.000 | 0.120 | 3 | 136023097 | frameshift variant | -/G | delins | 2 | |||
rs142836504 | 1.000 | 0.120 | 4 | 101098491 | missense variant | C/T | snv | 2.4E-04 | 8.4E-05 | 1 | |
rs10273639 | 0.776 | 0.280 | 7 | 142749077 | upstream gene variant | T/A;C | snv | 9 | |||
rs121909235 | 0.851 | 0.240 | 10 | 87957919 | missense variant | G/A | snv | 8 | |||
rs397518481 | 0.925 | 0.120 | 3 | 25501230 | stop gained | C/G;T | snv | 2 | |||
rs1481868107 | 1.000 | 0.120 | 11 | 65654980 | missense variant | T/C | snv | 1 |