Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894422 | 1.000 | 0.200 | 13 | 23324513 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs104894681 | 0.776 | 0.200 | 19 | 46756793 | missense variant | C/T | snv | 9.0E-06 | 5 | ||
rs111033570 | 0.925 | 0.160 | 9 | 116699201 | missense variant | G/A | snv | 8.0E-06 | 3 | ||
rs116840778 | 0.882 | 0.200 | 3 | 8733956 | missense variant | G/A;C | snv | 4 | |||
rs116840805 | 0.827 | 0.160 | 3 | 8745725 | missense variant | C/T | snv | 1 | |||
rs119462982 | 1.000 | 0.120 | 9 | 131509801 | missense variant | G/C | snv | 8.0E-06 | 1 | ||
rs121908960 | 1.000 | 0.120 | 2 | 71553131 | missense variant | G/A;T | snv | 5.6E-05 | 1 | ||
rs121908961 | 1.000 | 0.120 | 2 | 71667376 | missense variant | A/G | snv | 1 | |||
rs140403642 | 4 | 183682810 | stop gained | C/T | snv | 8.0E-06 | 4.2E-05 | 1 | |||
rs143570936 | 0.925 | 0.200 | 17 | 50169246 | missense variant | G/A | snv | 1.1E-04 | 1.8E-04 | 4 | |
rs1562449164 | 1.000 | 0.120 | 6 | 129314653 | splice acceptor variant | A/C | snv | 2 | |||
rs199806879 | 0.925 | 0.120 | 15 | 42408227 | missense variant | C/T | snv | 4.4E-05 | 3.5E-05 | 2 | |
rs267607045 | 1.000 | 0.200 | 5 | 156594940 | missense variant | G/C | snv | 1 | |||
rs28936383 | 1.000 | 0.200 | 4 | 52028899 | missense variant | G/C | snv | 1.4E-05 | 1 | ||
rs28937900 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 33 | ||
rs387907150 | 1.000 | 7 | 157367402 | missense variant | T/A;C | snv | 1 | ||||
rs397517921 | 5 | 156594936 | frameshift variant | A/- | delins | 1 | |||||
rs45495192 | 1.000 | 0.120 | 17 | 39665391 | stop gained | C/A;G;T | snv | 4.0E-06; 2.7E-04; 1.0E-03 | 1 | ||
rs543163491 | 0.827 | 0.160 | 19 | 46755995 | missense variant | A/G;T | snv | 8.2E-05; 6.8E-06 | 5 | ||
rs72546668 | 0.807 | 0.200 | 3 | 8745644 | missense variant | C/A;T | snv | 4.0E-06; 2.6E-03 | 2 | ||
rs72677232 | 2 | 178618210 | missense variant | C/T | snv | 1.6E-03 | 2.0E-03 | 1 | |||
rs747685252 | 9 | 116698433 | frameshift variant | G/- | del | 2.4E-05 | 7.0E-06 | 1 | |||
rs750083132 | 1.000 | 0.120 | 15 | 42410633 | missense variant | A/G | snv | 8.0E-06 | 1 | ||
rs757082154 | 1.000 | 0.120 | 2 | 178527491 | stop gained | G/A | snv | 1.2E-05 | 8 | ||
rs760768093 | 0.882 | 0.160 | 2 | 178533255 | frameshift variant | C/- | delins | 2.4E-05 | 1.4E-05 | 7 |