Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs35927125 | 0.925 | 0.080 | 2 | 10046292 | missense variant | A/G;T | snv | 9.3E-02 | 3 | ||
rs34336420 | 0.882 | 0.080 | 2 | 10047996 | missense variant | C/G;T | snv | 4.0E-06; 3.3E-03 | 3 | ||
rs121912645 | 0.882 | 0.080 | 2 | 10048376 | missense variant | G/T | snv | 1.3E-04 | 8.4E-05 | 3 | |
rs867120336 | 1.000 | 0.040 | 2 | 10048589 | frameshift variant | -/A | delins | 4.1E-06 | 2 | ||
rs12910524 | 1.000 | 0.040 | 15 | 101262360 | intergenic variant | T/A;C | snv | 2 | |||
rs2335491 | 1.000 | 0.040 | 4 | 1017278 | intron variant | T/A;G | snv | 9.5E-06 | 2 | ||
rs1416580204 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 49 | |
rs1520220 | 0.807 | 0.280 | 12 | 102402744 | intron variant | G/C;T | snv | 0.76 | 9 | ||
rs2195239 | 0.851 | 0.240 | 12 | 102462924 | non coding transcript exon variant | C/G | snv | 0.28 | 7 | ||
rs696217 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 30 | |
rs7950273 | 0.925 | 0.120 | 11 | 104160870 | intron variant | C/G | snv | 0.32 | 4 | ||
rs9282541 | 0.790 | 0.160 | 9 | 104858554 | missense variant | G/A | snv | 1.3E-02 | 4.4E-03 | 10 | |
rs7528153 | 0.925 | 0.080 | 1 | 107765105 | missense variant | T/A | snv | 0.58 | 0.64 | 4 | |
rs786203926 | 0.882 | 0.120 | 11 | 108227678 | synonymous variant | T/C | snv | 4 | |||
rs1801516 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 37 | |
rs11212617 | 0.827 | 0.200 | 11 | 108412434 | intron variant | C/A | snv | 0.49 | 6 | ||
rs2268388 | 0.851 | 0.200 | 12 | 109205840 | intron variant | G/A | snv | 0.14 | 6 | ||
rs2239607 | 0.925 | 0.120 | 12 | 109209475 | intron variant | A/G | snv | 0.14 | 3 | ||
rs536289169 | 0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 | 13 | ||
rs2241745 | 0.882 | 0.120 | 13 | 109770184 | intron variant | C/T | snv | 0.88 | 4 | ||
rs1236009270 | 1.000 | 0.040 | 16 | 10977321 | synonymous variant | C/T | snv | 2 | |||
rs713041 | 0.776 | 0.400 | 19 | 1106616 | stop gained | T/A;C | snv | 4.2E-06; 0.58 | 16 | ||
rs12229654 | 0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 | 6 | ||
rs553668 | 0.807 | 0.160 | 10 | 111079821 | 3 prime UTR variant | A/G;T | snv | 8 | |||
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 29 |