Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3764650 | 0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 | 9 | ||
rs1990622 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 16 | ||
rs12817488 | 1.000 | 0.040 | 12 | 122811747 | intron variant | G/A | snv | 0.39 | 3 | ||
rs744373 | 0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 | 8 | ||
rs11767557 | 0.882 | 0.080 | 7 | 143412046 | intron variant | T/C | snv | 0.18 | 4 | ||
rs4538475 | 1.000 | 0.040 | 4 | 15736314 | intron variant | A/G | snv | 0.24 | 2 | ||
rs767181086 | 0.827 | 0.240 | 1 | 183220922 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 11 | ||
rs12734001 | 1.000 | 0.080 | 1 | 202421786 | intron variant | C/T | snv | 3.5E-05 | 2 | ||
rs947211 | 0.925 | 0.040 | 1 | 205783537 | non coding transcript exon variant | A/G | snv | 0.64 | 3 | ||
rs2814707 | 0.882 | 0.120 | 9 | 27536399 | non coding transcript exon variant | C/G;T | snv | 4 | |||
rs3849942 | 0.776 | 0.200 | 9 | 27543283 | non coding transcript exon variant | T/A;C | snv | 9 | |||
rs11136000 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 19 | ||
rs1016726 | 7 | 29316787 | intron variant | G/A | snv | 0.12 | 1 | ||||
rs1994090 | 1.000 | 0.040 | 12 | 40034759 | intron variant | G/A;T | snv | 2 | |||
rs1188539174 | 12 | 40232341 | missense variant | C/T | snv | 4.0E-06 | 1 | ||||
rs2075650 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 45 | |
rs597668 | 0.925 | 0.080 | 19 | 45205630 | intron variant | T/A;C;G | snv | 3 | |||
rs393152 | 0.851 | 0.160 | 17 | 45641777 | non coding transcript exon variant | A/G | snv | 0.18 | 0.29 | 7 | |
rs6052751 | 20 | 4664427 | intron variant | G/A;C | snv | 1 | |||||
rs2756271 | 20 | 4684616 | intron variant | A/G;T | snv | 1 | |||||
rs6107516 | 1.000 | 0.120 | 20 | 4696446 | intron variant | G/A | snv | 0.23 | 2 | ||
rs193922906 | 0.882 | 0.160 | 20 | 4699380 | inframe insertion | TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | delins | 4 | |||
rs74315401 | 0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv | 32 | |||
rs74315414 | 0.882 | 0.200 | 20 | 4699533 | missense variant | C/A;T | snv | 4.0E-06 | 5 | ||
rs11538758 | 0.882 | 0.160 | 20 | 4699534 | missense variant | C/A;T | snv | 8 |