Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1016726 | 7 | 29316787 | intron variant | G/A | snv | 0.12 | 1 | ||||
rs10509125 | 10 | 60167108 | intron variant | C/A | snv | 0.56 | 2 | ||||
rs10994443 | 1.000 | 0.040 | 10 | 60635760 | intron variant | G/A | snv | 0.11 | 2 | ||
rs11136000 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 19 | ||
rs11538758 | 0.882 | 0.160 | 20 | 4699534 | missense variant | C/A;T | snv | 8 | |||
rs11767557 | 0.882 | 0.080 | 7 | 143412046 | intron variant | T/C | snv | 0.18 | 4 | ||
rs1178466848 | 0.925 | 0.120 | 20 | 4699785 | missense variant | G/A | snv | 2.8E-05 | 4 | ||
rs1188539174 | 12 | 40232341 | missense variant | C/T | snv | 4.0E-06 | 1 | ||||
rs12734001 | 1.000 | 0.080 | 1 | 202421786 | intron variant | C/T | snv | 3.5E-05 | 2 | ||
rs12817488 | 1.000 | 0.040 | 12 | 122811747 | intron variant | G/A | snv | 0.39 | 3 | ||
rs1292160648 | 20 | 4699738 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs1473972013 | 0.925 | 0.160 | 1 | 47035911 | missense variant | G/A | snv | 7.0E-06 | 3 | ||
rs16990018 | 0.882 | 0.120 | 20 | 4699732 | missense variant | A/G | snv | 3.8E-03 | 1.6E-02 | 5 | |
rs1799990 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 23 | |
rs1800014 | 0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 | 11 | |
rs193922906 | 0.882 | 0.160 | 20 | 4699380 | inframe insertion | TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | delins | 4 | |||
rs1990622 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 16 | ||
rs1994090 | 1.000 | 0.040 | 12 | 40034759 | intron variant | G/A;T | snv | 2 | |||
rs2075650 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 45 | |
rs267606980 | 1.000 | 0.080 | 20 | 4699600 | missense variant | G/T | snv | 4.0E-06 | 2 | ||
rs2736990 | 0.882 | 0.080 | 4 | 89757390 | intron variant | G/A;T | snv | 4 | |||
rs2756271 | 20 | 4684616 | intron variant | A/G;T | snv | 1 | |||||
rs2814707 | 0.882 | 0.120 | 9 | 27536399 | non coding transcript exon variant | C/G;T | snv | 4 | |||
rs28933385 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 25 | ||
rs368821179 | 0.925 | 0.160 | 17 | 80182758 | missense variant | T/C | snv | 8.0E-06 | 2.1E-05 | 3 |