Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs756198077 | 1.000 | 0.040 | 7 | 124842883 | stop gained | G/A | snv | 2.4E-05 | 3.5E-05 | 1 | |
rs947005337 | 0.925 | 0.120 | 7 | 124870933 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 | 2 | |
rs368807126 | 1.000 | 0.040 | 3 | 12591730 | missense variant | T/A | snv | 4.0E-06 | 1 | ||
rs1057519815 | 1.000 | 0.040 | 3 | 12599696 | missense variant | C/G | snv | 1 | |||
rs727505017 | 0.882 | 0.200 | 3 | 12604201 | missense variant | A/G;T | snv | 3 | |||
rs750697353 | 0.882 | 0.080 | 3 | 12608919 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 4 | |
rs765857063 | 1.000 | 0.040 | 3 | 12618634 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs2733832 | 1.000 | 0.040 | 9 | 12704725 | intron variant | C/A;G;T | snv | 8.0E-06; 0.45 | 1 | ||
rs16901979 | 0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 | 17 | ||
rs2242652 | 0.724 | 0.400 | 5 | 1279913 | intron variant | G/A | snv | 0.18 | 16 | ||
rs139996880 | 0.882 | 0.120 | 5 | 1284538 | intron variant | G/A | snv | 0.12 | 3 | ||
rs2853676 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 29 | |||
rs7944031 | 0.925 | 0.080 | 11 | 12907573 | intron variant | A/G | snv | 0.21 | 2 | ||
rs2736098 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 48 | |
rs36115365 | 0.807 | 0.160 | 5 | 1313127 | upstream gene variant | G/A;C;T | snv | 7 | |||
rs401681 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 42 | ||
rs228437 | 1.000 | 0.040 | 6 | 134577318 | intron variant | C/A;G;T | snv | 1 | |||
rs147198552 | 0.882 | 0.080 | 2 | 136115450 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 3 | |
rs910532454 | 0.882 | 0.080 | 2 | 136115453 | missense variant | C/A;T | snv | 4.0E-06 | 4 | ||
rs145735047 | 1.000 | 0.040 | 6 | 136698529 | missense variant | G/A | snv | 1 | |||
rs755878795 | 1.000 | 0.040 | 3 | 139517664 | missense variant | C/G | snv | 4.4E-05 | 1.4E-05 | 1 | |
rs1378002074 | 1.000 | 0.040 | 8 | 140664985 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs121913372 | 1.000 | 0.040 | 7 | 140753321 | missense variant | CT/AA | mnv | 1 | |||
rs121913373 | 1.000 | 0.040 | 7 | 140753321 | missense variant | C/T | snv | 1 | |||
rs121913365 | 0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv | 10 |