Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs531564 | 0.672 | 0.480 | 8 | 9903189 | non coding transcript exon variant | G/C | snv | 0.14 | 27 | ||
rs7166348 | 1.000 | 0.080 | 15 | 98704566 | intron variant | G/A;T | snv | 0.21 | 2 | ||
rs965513 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 12 | |||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs6990097 | 0.882 | 0.120 | 8 | 9555347 | non coding transcript exon variant | T/C | snv | 0.28 | 3 | ||
rs13293512 | 0.763 | 0.360 | 9 | 94167461 | intron variant | T/C | snv | 0.24 | 11 | ||
rs778036161 | 0.776 | 0.080 | 8 | 92017363 | missense variant | T/C | snv | 8.0E-06 | 9 | ||
rs778962647 | 1.000 | 0.080 | 8 | 91986282 | missense variant | G/T | snv | 4.0E-06 | 1 | ||
rs7963551 | 0.807 | 0.160 | 12 | 912349 | 3 prime UTR variant | T/G | snv | 0.13 | 7 | ||
rs42490 | 0.882 | 0.160 | 8 | 89766285 | intron variant | G/A | snv | 0.60 | 4 | ||
rs2231142 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 54 | ||
rs2622621 | 0.851 | 0.240 | 4 | 88109768 | intron variant | C/A;G | snv | 3 | |||
rs11730582 | 0.807 | 0.240 | 4 | 87975269 | non coding transcript exon variant | T/C | snv | 0.37 | 10 | ||
rs4693608 | 0.827 | 0.200 | 4 | 83320204 | intron variant | G/A;C | snv | 6 | |||
rs11099592 | 0.851 | 0.160 | 4 | 83309466 | missense variant | T/C | snv | 0.78 | 0.80 | 5 | |
rs17530068 | 0.882 | 0.120 | 6 | 81483392 | intergenic variant | T/C | snv | 0.19 | 3 | ||
rs2288496 | 0.925 | 0.120 | 14 | 81145770 | 3 prime UTR variant | T/C | snv | 0.39 | 2 | ||
rs12918952 | 0.851 | 0.120 | 16 | 78386878 | missense variant | G/A;C;T | snv | 7 | |||
rs13042395 | 0.752 | 0.160 | 20 | 773867 | intron variant | C/T | snv | 5.9E-02 | 13 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 213 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs761797378 | 1.000 | 0.080 | 3 | 75737671 | missense variant | T/A | snv | 2.0E-05 | 2.0E-05 | 1 | |
rs1187825488 | 1.000 | 0.080 | 3 | 75737670 | frameshift variant | TT/- | del | 7.9E-04 | 1 | ||
rs2071504 | 0.882 | 0.120 | 17 | 7502618 | non coding transcript exon variant | C/T | snv | 0.18 | 0.17 | 4 |