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 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs662 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 157 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs2010963 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 82 | ||
rs6313 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 82 | |
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs953038635 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 51 | ||
rs1799724 | 0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 | 47 | ||
rs1256049 | 0.645 | 0.560 | 14 | 64257333 | synonymous variant | C/T | snv | 6.7E-02 | 6.3E-02 | 32 | |
rs6314 | 0.677 | 0.360 | 13 | 46834899 | missense variant | G/A | snv | 7.9E-02 | 9.5E-02 | 23 | |
rs6198 | 0.724 | 0.480 | 5 | 143278056 | 3 prime UTR variant | T/C | snv | 0.12 | 16 | ||
rs2855812 | 0.790 | 0.360 | 6 | 31504943 | intron variant | G/T | snv | 0.23 | 13 | ||
rs2227956 | 0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 | 12 | ||
rs33388 | 0.776 | 0.360 | 5 | 143317730 | intron variant | A/T | snv | 0.53 | 12 | ||
rs1480380 | 0.763 | 0.360 | 6 | 32945469 | intron variant | C/T | snv | 0.11 | 10 | ||
rs208294 | 0.790 | 0.320 | 12 | 121162450 | missense variant | T/A;C;G | snv | 0.51 | 9 | ||
rs9275524 | 0.807 | 0.160 | 6 | 32707332 | upstream gene variant | T/C | snv | 0.58 | 7 | ||
rs389883 | 0.827 | 0.200 | 6 | 31979683 | non coding transcript exon variant | G/T | snv | 0.80 | 6 | ||
rs796590326 | 0.851 | 0.200 | 12 | 121162449 | missense variant | GT/AC | mnv | 5 |