Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1481892 | 11 | 13280374 | intron variant | G/C | snv | 0.62 | 3 | ||||
rs35275025 | 1.000 | 0.080 | 17 | 8141219 | missense variant | C/G;T | snv | 4.0E-06 | 3 | ||
rs10864315 | 1 | 7790021 | intron variant | C/T | snv | 0.28 | 3 | ||||
rs3805148 | 4 | 55440643 | intron variant | A/C | snv | 0.33 | 3 | ||||
rs9315202 | 0.925 | 0.080 | 13 | 33067879 | downstream gene variant | C/T | snv | 0.24 | 4 | ||
rs11600996 | 1.000 | 0.040 | 11 | 13374619 | intron variant | T/C | snv | 0.40 | 4 | ||
rs1982350 | 11 | 13328584 | intron variant | A/G | snv | 0.57 | 4 | ||||
rs777323132 | 0.882 | 0.240 | 15 | 42399616 | missense variant | C/T | snv | 4.0E-06; 2.4E-05 | 7.0E-06 | 4 | |
rs9563121 | 0.925 | 0.080 | 13 | 33050369 | intron variant | C/T | snv | 0.26 | 4 | ||
rs2640909 | 1 | 7830057 | missense variant | T/C | snv | 0.14 | 0.23 | 4 | |||
rs1229030855 | 0.925 | 0.080 | 12 | 56428321 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs1057521721 | 0.851 | 0.200 | X | 123428020 | missense variant | G/A | snv | 5 | |||
rs1057521223 | 1.000 | 0.040 | 2 | 165373339 | stop gained | G/A;T | snv | 5 | |||
rs4719714 | 1.000 | 0.080 | 7 | 22721094 | intron variant | A/T | snv | 0.21 | 5 | ||
rs156243 | 0.925 | 0.080 | 6 | 104416939 | intergenic variant | G/A | snv | 0.65 | 6 | ||
rs10766075 | 0.925 | 0.080 | 11 | 13297040 | intron variant | C/T | snv | 0.27 | 6 | ||
rs11022778 | 0.925 | 0.080 | 11 | 13369313 | intron variant | T/A;G | snv | 6 | |||
rs3789327 | 0.925 | 0.080 | 11 | 13363769 | intron variant | A/G | snv | 0.53 | 6 | ||
rs1555358382 | 14 | 54844115 | stop gained | G/A | snv | 6 | |||||
rs397507562 | 0.851 | 0.240 | 12 | 101757311 | splice acceptor variant | C/G;T | snv | 6 | |||
rs773685207 | 0.851 | 0.200 | 17 | 61966645 | stop gained | G/A;C;T | snv | 4.3E-06; 4.3E-05 | 6 | ||
rs1064793575 | 0.925 | 0.040 | X | 136016706 | frameshift variant | GT/- | delins | 6 | |||
rs2291739 | 0.925 | 0.080 | 12 | 56420869 | missense variant | G/A;C | snv | 0.49; 4.0E-06 | 6 | ||
rs755246809 | 0.827 | 0.280 | 6 | 135404951 | frameshift variant | T/- | delins | 5.9E-04 | 4.9E-05 | 7 | |
rs11824092 | 0.925 | 0.080 | 11 | 13324747 | intron variant | T/C | snv | 0.62 | 7 |