Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs7849782 | 0.925 | 0.160 | 9 | 101664982 | intron variant | C/A;G;T | snv | 3 | |||
rs104895358 | 12 | 109595148 | missense variant | G/A | snv | 1.2E-05 | 2 | ||||
rs28934897 | 0.790 | 0.400 | 12 | 109596515 | missense variant | G/A | snv | 1.6E-03 | 1.5E-03 | 10 | |
rs3811047 | 0.807 | 0.400 | 2 | 112913833 | missense variant | A/G | snv | 0.71 | 0.60 | 10 | |
rs2285932 | 0.851 | 0.120 | 12 | 112949145 | synonymous variant | T/C | snv | 0.76 | 0.78 | 5 | |
rs2072136 | 0.851 | 0.120 | 12 | 112961114 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 6 | ||
rs1732778 | 0.882 | 0.080 | 12 | 113019120 | upstream gene variant | G/A | snv | 0.22 | 5 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1057518886 | 11 | 119090043 | frameshift variant | C/- | delins | 5 | |||||
rs1554785242 | 0.882 | 0.160 | 9 | 133426240 | missense variant | G/T | snv | 8 | |||
rs11575933 | 0.925 | 0.080 | 9 | 133436943 | missense variant | C/T | snv | 5.8E-03 | 2.3E-03 | 3 | |
rs1554791280 | 0.882 | 0.160 | 9 | 133442718 | missense variant | T/C | snv | 8 | |||
rs3804100 | 0.633 | 0.720 | 4 | 153704257 | synonymous variant | T/C | snv | 9.0E-02 | 6.7E-02 | 36 | |
rs876538 | 1 | 159705927 | upstream gene variant | T/A;C | snv | 2 | |||||
rs2808635 | 1 | 159724419 | intergenic variant | G/C;T | snv | 1 | |||||
rs121917748 | 0.882 | 0.120 | 2 | 165308751 | missense variant | C/T | snv | 2.0E-05 | 4 | ||
rs121918622 | 0.790 | 0.080 | 2 | 165992332 | missense variant | C/A;T | snv | 4.0E-06 | 9 | ||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs12477677 | 1.000 | 0.080 | 2 | 207666398 | intron variant | T/C | snv | 0.22 | 2 | ||
rs1055229 | 1.000 | 0.040 | 2 | 207666959 | non coding transcript exon variant | C/T | snv | 0.26 | 2 | ||
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs864309530 | 1 | 235806165 | missense variant | G/T | snv | 3 | |||||
rs1057518827 | 1.000 | 0.040 | 1 | 247425248 | missense variant | A/G | snv | 3 | |||
rs1204135596 | 1 | 247425398 | missense variant | A/G | snv | 4.0E-06 | 1 | ||||
rs35829419 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 23 |