Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1238968510 | 0.882 | 0.080 | 16 | 55479556 | missense variant | A/G;T | snv | 4.1E-06 | 2.1E-05 | 4 | |
rs199976573 | 0.925 | 0.120 | 4 | 88132618 | missense variant | C/T | snv | 6.4E-05 | 5.6E-05 | 4 | |
rs6808523 | 0.882 | 0.080 | 3 | 18430796 | intron variant | A/G | snv | 8.0E-02 | 4 | ||
rs112295309 | 1.000 | 0.080 | 8 | 143813896 | missense variant | T/C;G | snv | 6.1E-04 | 3 | ||
rs10146204 | 1.000 | 0.120 | 14 | 64352051 | non coding transcript exon variant | G/A | snv | 0.45 | 2 | ||
rs1052559 | 1.000 | 0.040 | 19 | 45351661 | stop gained | T/A;G | snv | 2 | |||
rs759404153 | 1.000 | 0.040 | 1 | 22910452 | missense variant | T/A;G | snv | 2.8E-05; 4.0E-06 | 2 | ||
rs1174029586 | 5 | 179705693 | missense variant | G/C | snv | 8.2E-06 | 1 | ||||
rs1242640031 | 17 | 1456106 | missense variant | G/C | snv | 1 | |||||
rs8021944 | 14 | 64212580 | intron variant | T/G | snv | 5.6E-02 | 1 | ||||
rs947996134 | 19 | 46412799 | missense variant | G/C | snv | 1.2E-05 | 2.1E-05 | 1 | |||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
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 |