Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs372883 | 0.827 | 0.360 | 21 | 29345416 | 3 prime UTR variant | T/C | snv | 0.53 | 5 | ||
rs1284110310 | 0.882 | 0.200 | 17 | 39706999 | missense variant | G/A | snv | 7.0E-06 | 5 | ||
rs1430452530 | 0.851 | 0.160 | 14 | 61721518 | missense variant | A/G | snv | 4.0E-06 | 5 | ||
rs12688220 | 0.827 | 0.200 | X | 107001537 | upstream gene variant | C/T | snv | 0.19 | 5 | ||
rs762581936 | 0.827 | 0.240 | 3 | 195788569 | missense variant | C/G;T | snv | 1.1E-05; 1.1E-05 | 5 | ||
rs1064793929 | 0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins | 5 | |||
rs11125529 | 0.882 | 0.280 | 2 | 54248729 | intron variant | C/A;T | snv | 3 | |||
rs757797666 | 0.925 | 0.240 | 18 | 22171617 | missense variant | G/T | snv | 1.4E-05 | 3 | ||
rs1399364791 | 0.882 | 0.240 | 12 | 55967046 | missense variant | G/A | snv | 4.0E-06 | 3 | ||
rs151341424 | 0.925 | 0.120 | 15 | 74190856 | missense variant | CC/TT | mnv | 3 | |||
rs10919791 | 0.925 | 0.240 | 1 | 199996040 | intergenic variant | G/A | snv | 0.22 | 2 | ||
rs67437265 | 0.925 | 0.160 | 4 | 71022523 | missense variant | C/T | snv | 1.8E-02 | 2.3E-02 | 2 | |
rs2242241 | 0.925 | 0.200 | 8 | 21909370 | missense variant | A/C | snv | 1.0E-02 | 7.9E-03 | 2 | |
rs11845046 | 1.000 | 0.120 | 14 | 39246997 | missense variant | A/G | snv | 0.22 | 0.20 | 2 | |
rs191544901 | 0.925 | 0.240 | 1 | 155187241 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
rs763861742 | 0.925 | 0.240 | 1 | 155187268 | missense variant | C/G;T | snv | 1.2E-05 | 2 | ||
rs1374154597 | 1.000 | 0.120 | 3 | 136023097 | frameshift variant | -/G | delins | 2 | |||
rs397518481 | 0.925 | 0.120 | 3 | 25501230 | stop gained | C/G;T | snv | 2 | |||
rs9854771 | 0.925 | 0.240 | 3 | 189790682 | intron variant | G/A | snv | 0.34 | 2 | ||
rs1569119395 | 0.925 | 0.120 | 22 | 45949926 | stop gained | G/A | snv | 2 | |||
rs767494439 | 1.000 | 0.120 | 22 | 17191686 | missense variant | T/C | snv | 2.4E-05 | 1 | ||
rs183117027 | 1.000 | 0.120 | 2 | 21004340 | missense variant | C/T | snv | 5.1E-04 | 1.9E-04 | 1 | |
rs1344011 | 1.000 | 0.120 | 18 | 54937957 | splice region variant | C/T | snv | 0.20 | 0.17 | 1 | |
rs7779540 | 1.000 | 0.120 | 7 | 153925577 | intron variant | G/A | snv | 6.7E-02 | 1 | ||
rs747115965 | 1.000 | 0.120 | 8 | 42288641 | missense variant | G/A | snv | 4.0E-06 | 1 |