Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs201131773 | 1.000 | 0.040 | 9 | 21805207 | intron variant | -/AC | delins | 1 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs1231071385 | 1.000 | 0.040 | 2 | 175093177 | frameshift variant | -/G | ins | 1 | |||
rs1057519729 | 0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv | 6 | |||
rs498136 | 0.851 | 0.080 | 11 | 69552350 | intergenic variant | A/C | snv | 0.68 | 4 | ||
rs1847134 | 0.925 | 0.080 | 11 | 89272085 | intron variant | A/C | snv | 0.26 | 3 | ||
rs397507482 | 0.882 | 0.040 | 7 | 140753386 | missense variant | A/C | snv | 3 | |||
rs144460286 | 0.925 | 0.080 | 7 | 55155922 | missense variant | A/C | snv | 4.0E-06 | 2 | ||
rs1453167097 | 0.925 | 0.080 | 17 | 7675172 | missense variant | A/C | snv | 2 | |||
rs1057519735 | 1.000 | 0.040 | 15 | 66490577 | missense variant | A/C | snv | 1 | |||
rs1351383 | 1.000 | 0.040 | 6 | 32854492 | intron variant | A/C | snv | 0.43 | 1 | ||
rs374980122 | 1.000 | 0.040 | 2 | 111142384 | missense variant | A/C | snv | 1.3E-05 | 3.5E-05 | 1 | |
rs4845622 | 1.000 | 0.040 | 1 | 154438943 | intron variant | A/C | snv | 0.32 | 1 | ||
rs2227981 | 0.763 | 0.400 | 2 | 241851121 | synonymous variant | A/C;G | snv | 1.6E-04; 0.63 | 12 | ||
rs11225395 | 0.776 | 0.360 | 11 | 102725749 | intron variant | A/C;G | snv | 11 | |||
rs121913512 | 0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv | 9 | |||
rs35407 | 0.807 | 0.080 | 5 | 33946466 | 3 prime UTR variant | A/C;G | snv | 6 | |||
rs1057520031 | 1.000 | 0.040 | 4 | 54727440 | missense variant | A/C;G | snv | 2 | |||
rs206118 | 0.925 | 0.080 | 13 | 32315655 | 5 prime UTR variant | A/C;G | snv | 2 | |||
rs397516790 | 0.925 | 0.200 | 15 | 66435115 | missense variant | A/C;G | snv | 2 | |||
rs4785759 | 1.000 | 0.040 | 16 | 89984472 | intron variant | A/C;G | snv | 1 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs121913274 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 33 | |||
rs10735810 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 26 |