Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1441937959 | 0.763 | 0.280 | 15 | 82240555 | missense variant | T/C | snv | 8.2E-06 | 20 | ||
rs11172113 | 0.882 | 0.080 | 12 | 57133500 | intron variant | T/C | snv | 0.42 | 10 | ||
rs1518111 | 0.790 | 0.360 | 1 | 206771300 | intron variant | T/C | snv | 0.71 | 9 | ||
rs2096525 | 0.827 | 0.280 | 22 | 23894632 | non coding transcript exon variant | T/C | snv | 0.20 | 0.20 | 6 | |
rs1835740 | 0.882 | 0.040 | 8 | 97154685 | intergenic variant | T/C | snv | 0.75 | 5 | ||
rs3761422 | 1.000 | 0.040 | 22 | 24430704 | intron variant | T/C | snv | 0.62 | 4 | ||
rs2530223 | 1.000 | 0.080 | 5 | 141634927 | synonymous variant | T/C | snv | 0.62 | 0.68 | 2 | |
rs10774231 | 12 | 4406208 | downstream gene variant | T/C | snv | 0.51 | 1 | ||||
rs34097149 | 3 | 154545386 | intergenic variant | T/C | snv | 2.0E-02 | 1 | ||||
rs4941139 | 18 | 62495558 | intergenic variant | T/C | snv | 0.31 | 1 | ||||
rs6606710 | 12 | 109411098 | intron variant | T/C | snv | 0.50 | 1 | ||||
rs2895526 | 10 | 12684062 | intron variant | T/A;G | snv | 1 | |||||
rs61752717 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 72 | ||
rs2651899 | 0.882 | 0.040 | 1 | 3167148 | intron variant | T/A;C | snv | 5 | |||
rs4909945 | 11 | 10652192 | missense variant | T/A;C | snv | 0.76 | 2 | ||||
rs797045032 | 0.827 | 0.280 | 7 | 143321720 | missense variant | GG/TC | mnv | 11 | |||
rs80359473 | 0.807 | 0.400 | 13 | 32339288 | frameshift variant | GAAA/- | delins | 12 | |||
rs1050316 | 1 | 156464911 | 3 prime UTR variant | G/T | snv | 0.54 | 3 | ||||
rs1352010373 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 73 | |||
rs755622 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 44 | ||
rs80358257 | 0.827 | 0.280 | 18 | 23538564 | missense variant | G/C | snv | 1.2E-04 | 2.1E-04 | 8 | |
rs1178187217 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 38 | ||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs1051730 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 43 | |
rs375817528 | 0.776 | 0.160 | 11 | 65206824 | splice region variant | G/A | snv | 1.2E-04 | 1.2E-04 | 25 |