Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042597 | 2 | 233618225 | missense variant | C/G;T | snv | 0.27; 4.0E-06 | 3 | ||||
rs12462111 | 19 | 48668049 | intron variant | C/T | snv | 0.33 | 2 | ||||
rs35106244 | 19 | 48700572 | intron variant | C/T | snv | 0.29 | 2 | ||||
rs12513549 | 5 | 80781309 | intron variant | G/T | snv | 0.13 | 1 | ||||
rs1360182594 | 1 | 11790755 | synonymous variant | G/A | snv | 4.0E-06 | 1 | ||||
rs1458320839 | 2 | 219218640 | missense variant | C/A;T | snv | 1 | |||||
rs17868320 | 2 | 233669782 | intron variant | C/T | snv | 4.0E-02 | 1 | ||||
rs200748388 | 7 | 87601021 | 5 prime UTR variant | G/A | snv | 7.0E-06 | 1 | ||||
rs2151222 | 1 | 206480926 | intron variant | A/G | snv | 0.28 | 1 | ||||
rs33013 | 5 | 80764197 | intron variant | G/A | snv | 0.35 | 1 | ||||
rs546983534 | 14 | 103708630 | missense variant | G/A | snv | 2.8E-05 | 1 | ||||
rs56038477 | 1 | 97573863 | synonymous variant | C/T | snv | 1.4E-02 | 1.3E-02 | 1 | |||
rs6151627 | 5 | 80669717 | intron variant | A/G | snv | 0.23 | 1 | ||||
rs745614189 | 7 | 87549387 | synonymous variant | G/A | snv | 4.0E-06 | 1 | ||||
rs769107320 | 4 | 69108277 | missense variant | G/A;C | snv | 1 | |||||
rs8111874 | 19 | 48665685 | intron variant | G/A | snv | 0.32 | 1 | ||||
rs9351963 | 6 | 73040138 | intron variant | A/C | snv | 0.19 | 1 | ||||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 73 | |||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 72 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 |