Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs211105 | 1.000 | 11 | 18033757 | intron variant | T/G | snv | 0.19 | 4 | |||
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 | ||||
rs1050274678 | 0.925 | 0.040 | 21 | 45530803 | missense variant | C/T | snv | 1.1E-05 | 7.0E-06 | 3 | |
rs17376848 | 0.925 | 0.040 | 1 | 97450068 | synonymous variant | A/G | snv | 5.1E-02 | 4.3E-02 | 3 | |
rs3758581 | 0.925 | 0.040 | 10 | 94842866 | missense variant | A/G | snv | 0.95 | 3 | ||
rs72552763 | 0.925 | 0.040 | 6 | 160139849 | inframe deletion | GAT/- | delins | 0.15 | 3 | ||
rs10474485 | 1.000 | 0.040 | 5 | 76975028 | intron variant | C/A | snv | 0.26 | 2 | ||
rs201253747 | 1.000 | 0.040 | 5 | 148483142 | 3 prime UTR variant | A/G | snv | 2.1E-03 | 2 | ||
rs1801019 | 0.882 | 0.080 | 3 | 124737895 | missense variant | G/A;C | snv | 4.0E-06; 0.19 | 4 |