Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4434553 | 1.000 | 0.040 | 7 | 100642568 | intron variant | A/G | snv | 0.40 | 5 | ||
rs60992881 | 16 | 107595 | intron variant | AAAAAAAAA/-;A;AA;AAA;AAAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAAAAA | delins | 0.38 | 2 | ||||
rs932223 | 6 | 109265453 | intron variant | T/C | snv | 0.51 | 2 | ||||
rs9487023 | 6 | 109268801 | intron variant | A/G | snv | 0.40 | 8 | ||||
rs9374081 | 6 | 109310579 | intron variant | A/G | snv | 0.26 | 2 | ||||
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 92 | ||
rs4766578 | 0.851 | 0.200 | 12 | 111466567 | intron variant | T/A | snv | 0.66 | 8 | ||
rs964184 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 47 | ||
rs3817621 | 19 | 12887391 | upstream gene variant | G/C;T | snv | 0.25 | 2 | ||||
rs8176747 | 9 | 133255928 | missense variant | C/A;G | snv | 4.1E-06; 0.12 | 6 | ||||
rs9389248 | 6 | 134961518 | 3 prime UTR variant | T/C | snv | 0.45 | 2 | ||||
rs113809617 | 9 | 137205865 | missense variant | C/G | snv | 0.13 | 0.12 | 5 | |||
rs592423 | 6 | 139519556 | intron variant | A/C | snv | 0.50 | 6 | ||||
rs2227930 | 3 | 142558733 | synonymous variant | A/T | snv | 0.55 | 0.63 | 3 | |||
rs1357529 | 3 | 142632255 | intron variant | T/A;C;G | snv | 2 | |||||
rs11735662 | 4 | 144104973 | intron variant | C/T | snv | 2.1E-02 | 3 | ||||
rs74417235 | 5 | 154647656 | intergenic variant | A/G | snv | 7.3E-02 | 2 | ||||
rs2022003 | 1 | 158617176 | intron variant | A/T | snv | 0.28 | 5 | ||||
rs59616136 | 19 | 17141231 | intron variant | G/A | snv | 8.1E-02 | 4 | ||||
rs532398216 | 16 | 182398 | downstream gene variant | TGAG/- | delins | 2.0E-03 | 5 | ||||
rs4916478 | 3 | 196195699 | downstream gene variant | C/A;G | snv | 2 | |||||
rs1434282 | 1 | 199041592 | non coding transcript exon variant | C/T | snv | 0.76 | 6 | ||||
rs61823972 | 1 | 205232197 | intron variant | A/C;T | snv | 4 | |||||
rs1505307 | 3 | 24301839 | intron variant | T/C | snv | 0.60 | 7 | ||||
rs3811444 | 1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 | 12 |