Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs764611833 | 1.000 | 0.120 | 6 | 32976671 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs765704299 | 1.000 | 0.120 | 6 | 32976157 | missense variant | G/A | snv | 4.1E-06 | 1 | ||
rs776772440 | 1.000 | 0.120 | 6 | 32976578 | missense variant | G/A | snv | 4.2E-06 | 1 | ||
rs1158932956 | 1.000 | 0.120 | 5 | 69168280 | frameshift variant | -/T | ins | 4.0E-06 | 7.0E-06 | 1 | |
rs1867265 | 1.000 | 0.120 | 1 | 239676807 | intron variant | C/T | snv | 0.33 | 1 | ||
rs397515531 | 1.000 | 0.120 | 6 | 32039548 | missense variant | C/G;T | snv | 1.5E-03; 1.4E-05 | 1 | ||
rs1627536 | 1.000 | 0.120 | 9 | 123780425 | intron variant | A/G;T | snv | 1 | |||
rs1778890 | 1.000 | 0.120 | 9 | 123769476 | intron variant | T/C | snv | 0.25 | 0.35 | 1 | |
rs189947178 | 1.000 | 0.120 | 9 | 123382111 | missense variant | G/T | snv | 5.1E-03 | 5.0E-03 | 1 | |
rs7857605 | 1.000 | 0.120 | 9 | 123745334 | intron variant | T/C | snv | 7.5E-02 | 1 | ||
rs9696009 | 1.000 | 0.120 | 9 | 123856954 | intron variant | G/A | snv | 0.17 | 1 | ||
rs2271194 | 1.000 | 0.120 | 12 | 56083910 | splice region variant | A/T | snv | 0.63 | 0.53 | 1 | |
rs1351592 | 1.000 | 0.120 | 2 | 212529988 | intron variant | C/G | snv | 0.29 | 1 | ||
rs2178575 | 1.000 | 0.120 | 2 | 212527042 | intron variant | G/A;T | snv | 1 | |||
rs2197076 | 1.000 | 0.120 | 2 | 88123239 | 3 prime UTR variant | G/A | snv | 0.17 | 1 | ||
rs3834363 | 1.000 | 0.120 | 8 | 81484006 | intron variant | TG/- | delins | 1 | |||
rs1044386 | 1.000 | 0.120 | 19 | 4795277 | 3 prime UTR variant | G/A | snv | 0.20 | 1 | ||
rs8111933 | 1.000 | 0.120 | 19 | 4795635 | 3 prime UTR variant | G/C | snv | 0.66 | 1 | ||
rs10152450 | 1.000 | 0.120 | 15 | 68279141 | intron variant | T/G | snv | 0.34 | 1 | ||
rs710059 | 1.000 | 0.120 | 14 | 61639547 | intron variant | C/T | snv | 0.60 | 1 | ||
rs10865238 | 1.000 | 0.120 | 2 | 49041665 | intron variant | A/G | snv | 0.63 | 1 | ||
rs11692782 | 1.000 | 0.120 | 2 | 49064754 | intron variant | T/A | snv | 0.40 | 1 | ||
rs2268361 | 1.000 | 0.120 | 2 | 48974473 | intron variant | C/T | snv | 0.53 | 1 | ||
rs2349415 | 1.000 | 0.120 | 2 | 49020693 | intron variant | T/C | snv | 0.63 | 1 | ||
rs1062809 | 1.000 | 0.120 | 5 | 53484261 | missense variant | C/A;G | snv | 1 |