Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs454886 | 0.763 | 0.280 | 5 | 112810420 | intron variant | A/G | snv | 0.26 | 10 | ||
rs786201856 | 0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv | 10 | |||
rs121918079 | 0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv | 10 | |||
rs137854575 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 9 | ||
rs2266780 | 0.827 | 0.280 | 1 | 171114102 | missense variant | A/G | snv | 0.15 | 0.14 | 9 | |
rs11541796 | 0.807 | 0.280 | 18 | 31593011 | missense variant | A/G | snv | 9 | |||
rs62619935 | 0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 | 8 | ||
rs1984112 | 0.807 | 0.280 | 7 | 80613604 | intron variant | A/G | snv | 0.33 | 8 | ||
rs121918090 | 0.790 | 0.240 | 18 | 31593026 | missense variant | G/C | snv | 8 | |||
rs28933981 | 0.807 | 0.200 | 18 | 31598647 | missense variant | C/T | snv | 1.5E-03 | 1.7E-03 | 8 | |
rs3838646 | 0.827 | 0.320 | Y | 18991182 | intron variant | CA/- | del | 8 | |||
rs145945630 | 0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 | 7 | ||
rs387906234 | 0.827 | 0.120 | 5 | 112839979 | frameshift variant | AGAG/-;AG | delins | 7 | |||
rs397515734 | 0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv | 7 | |||
rs587781392 | 0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv | 7 | |||
rs587783031 | 0.851 | 0.120 | 5 | 112840255 | frameshift variant | A/-;AA | delins | 7 | |||
rs863225311 | 0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv | 7 | |||
rs52812045 | 0.851 | 0.240 | Y | 18992540 | non coding transcript exon variant | G/A | snv | 7 | |||
rs121913333 | 0.882 | 0.120 | 5 | 112838220 | stop gained | C/A;T | snv | 6 | |||
rs137854580 | 0.827 | 0.120 | 5 | 112827194 | stop gained | C/G;T | snv | 2.8E-05 | 6 | ||
rs2229992 | 0.827 | 0.200 | 5 | 112827157 | stop gained | T/C;G | snv | 0.58 | 0.47 | 6 | |
rs770649674 | 0.807 | 0.120 | 5 | 112827177 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 6 | |
rs766001707 | 0.851 | 0.200 | 14 | 92096772 | missense variant | C/T | snv | 6 | |||
rs63750138 | 0.851 | 0.160 | 2 | 47800297 | missense variant | C/A;G;T | snv | 2.0E-05; 8.0E-06 | 6 | ||
rs1057517457 | 0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 | 6 |