Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs2236225 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 52 | |
rs1051266 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 41 | ||
rs1137100 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 39 | |
rs4846049 | 0.776 | 0.360 | 1 | 11790308 | 3 prime UTR variant | T/A;G | snv | 11 | |||
rs3740393 | 0.776 | 0.280 | 10 | 102876898 | intron variant | G/C;T | snv | 10 | |||
rs1476413 | 0.790 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 | 10 | |
rs710218 | 0.882 | 0.280 | 1 | 42961547 | intron variant | T/A | snv | 0.38 | 5 | ||
rs7560488 | 0.851 | 0.160 | 2 | 25345952 | upstream gene variant | T/C | snv | 0.40 | 4 | ||
rs1303000329 | 0.851 | 0.080 | 8 | 13110812 | missense variant | G/A;T | snv | 4.0E-06 | 4 | ||
rs12121543 | 0.851 | 0.240 | 1 | 11794614 | intron variant | C/A | snv | 0.21 | 4 | ||
rs2070424 | 0.851 | 0.200 | 21 | 31667007 | non coding transcript exon variant | A/G | snv | 0.13 | 4 | ||
rs786204030 | 0.882 | 0.080 | 1 | 11791276 | stop gained | C/T | snv | 3 | |||
rs1563593163 | 0.925 | 0.080 | 8 | 13099960 | stop gained | G/A | snv | 2 | |||
rs374628070 | 1.000 | 0.080 | 11 | 72139145 | missense variant | G/A | snv | 7.7E-05 | 2.6E-04 | 2 | |
rs1565818580 | 0.925 | 0.080 | 10 | 32908395 | frameshift variant | -/T | delins | 2 | |||
rs745579533 | 0.925 | 0.080 | 12 | 53382768 | missense variant | C/T | snv | 2 | |||
rs13908 | 1.000 | 0.080 | 11 | 72218687 | missense variant | A/G | snv | 1 | |||
rs7925545 | 1.000 | 0.080 | 11 | 72134495 | intron variant | A/G | snv | 8.4E-02 | 1 | ||
rs7926875 | 1.000 | 0.080 | 11 | 72138396 | intron variant | C/A | snv | 6.9E-02 | 1 | ||
rs7926987 | 1.000 | 0.080 | 11 | 72138457 | intron variant | C/G;T | snv | 1 | |||
rs1888530 | 1.000 | 0.080 | 21 | 45516509 | intron variant | C/T | snv | 0.50 | 1 | ||
rs3788200 | 1.000 | 0.080 | 21 | 45536657 | intron variant | A/G | snv | 0.54 | 1 | ||
rs2229682 | 1.000 | 0.080 | 1 | 42929964 | synonymous variant | C/G;T | snv | 4.0E-06; 0.18 | 1 | ||
rs17847972 | 1.000 | 0.080 | 12 | 7924406 | splice region variant | C/T | snv | 1 |