Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11121704 | 1 | 11233902 | intron variant | C/A;T | snv | 3 | |||||
rs11066280 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 10 | ||
rs121918461 | 0.827 | 0.240 | 12 | 112450362 | missense variant | A/C;G;T | snv | 5 | |||
rs2295080 | 0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv | 20 | |||
rs121913331 | 0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 | 6 | ||
rs3740530 | 1.000 | 0.080 | 10 | 113574365 | synonymous variant | C/T | snv | 0.63 | 0.55 | 2 | |
rs2286742 | 1.000 | 0.080 | 10 | 113580733 | intron variant | G/A;C | snv | 0.57; 8.2E-06 | 2 | ||
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 38 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs121913254 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 29 | |||
rs1213469537 | 0.882 | 0.080 | 7 | 116559145 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 9 | |
rs1057519824 | 0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv | 9 | |||
rs41281081 | 1.000 | 0.080 | 7 | 116796211 | 3 prime UTR variant | G/A | snv | 2.5E-03 | 3 | ||
rs76322625 | 1.000 | 0.080 | 7 | 116798111 | 3 prime UTR variant | C/A;T | snv | 3 | |||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 221 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs3923594 | 1.000 | 0.120 | 11 | 119317205 | intron variant | C/A;T | snv | 7.1E-06 | 2 | ||
rs1472189 | 11 | 11962338 | 3 prime UTR variant | C/T | snv | 0.25 | 1 | ||||
rs2994809 | 1 | 119809354 | intron variant | T/C | snv | 0.91 | 1 | ||||
rs1458974438 | 0.807 | 0.080 | 19 | 1206957 | missense variant | G/A | snv | 9 | |||
rs200081710 | 1.000 | 0.120 | 4 | 121154648 | missense variant | T/C | snv | 7.0E-06 | 3 | ||
rs2981582 | 0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 | 20 |