Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11231017 | 0.925 | 11 | 62293877 | downstream gene variant | G/A | snv | 0.29 | 5 | |||
rs10831234 | 1.000 | 11 | 94500021 | downstream gene variant | C/T | snv | 0.11 | 1 | |||
rs6996198 | 1.000 | 8 | 64550885 | downstream gene variant | C/T | snv | 0.18 | 1 | |||
rs79709413 | 0.882 | 0.080 | 13 | 24740488 | upstream gene variant | G/T | snv | 4.7E-02 | 6 | ||
rs10892324 | 0.925 | 11 | 119032329 | upstream gene variant | T/A;G | snv | 5 | ||||
rs10415893 | 1.000 | 19 | 17401603 | upstream gene variant | G/A | snv | 0.18 | 1 | |||
rs35228531 | 1.000 | 22 | 39087839 | upstream gene variant | C/G;T | snv | 1 | ||||
rs139292 | 1.000 | 22 | 39100318 | inframe deletion | CAA/- | delins | 1 | ||||
rs12252 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 23 | |
rs17151904 | 0.925 | 7 | 25568789 | TF binding site variant | G/A;C | snv | 5 | ||||
rs368234815 | 0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins | 15 | |||
rs1801157 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 46 | ||
rs10754558 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 20 | |||
rs8321 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 16 | |
rs1063320 | 0.752 | 0.360 | 6 | 29830972 | 3 prime UTR variant | C/G;T | snv | 12 | |||
rs4835796 | 0.925 | 5 | 138446426 | 3 prime UTR variant | T/G | snv | 0.56 | 5 | |||
rs4704846 | 1.000 | 5 | 157086333 | 3 prime UTR variant | G/A | snv | 0.79 | 2 | |||
rs17878969 | 1.000 | 12 | 47842624 | 3 prime UTR variant | TTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT | delins | 1 | ||||
rs9576 | 1.000 | 19 | 17403172 | 3 prime UTR variant | T/G | snv | 0.92 | 1 | |||
rs6850 | 0.790 | 0.160 | 7 | 44796715 | 5 prime UTR variant | A/G;T | snv | 0.26; 4.0E-06 | 9 | ||
rs1143634 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 52 | |
rs371074389 | 0.732 | 0.320 | 2 | 136115226 | synonymous variant | C/T | snv | 4.0E-06 | 4.2E-05 | 16 | |
rs766914563 | 0.732 | 0.320 | 2 | 136115082 | synonymous variant | C/T | snv | 7.0E-06 | 16 | ||
rs781172058 | 0.732 | 0.320 | 2 | 136115340 | synonymous variant | C/T | snv | 4.0E-06 | 16 | ||
rs11157436 | 0.851 | 0.040 | 14 | 22168978 | synonymous variant | C/T | snv | 0.19 | 7 |