Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs53576 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 42 | |||
rs2070951 | 0.776 | 0.320 | 4 | 148436862 | splice region variant | G/A;C | snv | 4.2E-06; 0.53 | 9 | ||
rs174583 | 0.807 | 0.320 | 11 | 61842278 | intron variant | C/T | snv | 0.35 | 16 | ||
rs879255273 | 0.925 | 0.040 | 6 | 112064998 | splice donor variant | G/A | snv | 7 | |||
rs1480620991 | 0.925 | 0.040 | 12 | 47984580 | missense variant | C/G | snv | 4.0E-06 | 2 | ||
rs869312907 | 0.925 | 0.040 | 12 | 47995910 | missense variant | C/T | snv | 2 | |||
rs174575 | 1.000 | 0.040 | 11 | 61834531 | intron variant | C/G | snv | 0.25 | 3 | ||
rs174553 | 1.000 | 0.040 | 11 | 61807686 | intron variant | A/G;T | snv | 0.28 | 2 | ||
rs781986930 | 1.000 | 0.040 | 6 | 112069565 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs121908899 | 1.000 | 0.040 | 6 | 112064842 | missense variant | G/A;C | snv | 1 | |||
rs121908900 | 1.000 | 0.040 | 6 | 112069548 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
rs121908901 | 1.000 | 0.040 | 6 | 112061098 | stop gained | C/A;T | snv | 4.0E-05; 4.0E-06 | 2.1E-05 | 1 | |
rs121908902 | 1.000 | 0.040 | 6 | 112061174 | missense variant | T/C | snv | 1 | |||
rs121908903 | 1.000 | 0.040 | 6 | 112069555 | missense variant | T/C | snv | 1 | |||
rs1562595388 | 1.000 | 0.040 | 6 | 112061175 | missense variant | G/A | snv | 1 | |||
rs1562599153 | 1.000 | 0.040 | 6 | 112068307 | frameshift variant | T/- | del | 1 | |||
rs727503755 | 1.000 | 0.040 | 6 | 112068352 | frameshift variant | GT/- | delins | 8.0E-06 | 7.0E-06 | 1 | |
rs781838640 | 1.000 | 0.040 | 6 | 112069421 | frameshift variant | AG/- | delins | 1 | |||
rs782172825 | 1.000 | 0.040 | 6 | 112061139 | missense variant | G/A | snv | 2.1E-05 | 1 | ||
rs782813346 | 1.000 | 0.040 | 6 | 112068282 | missense variant | T/C;G | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs797044438 | 1.000 | 0.040 | 6 | 112061188 | frameshift variant | A/- | del | 1 | |||
rs797044439 | 1.000 | 0.040 | 6 | 112054406 | splice donor variant | -/T | delins | 1 |