Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11674595 | 0.763 | 0.200 | 2 | 101994530 | intron variant | T/C | snv | 0.22 | 13 | ||
rs2072472 | 0.732 | 0.200 | 2 | 102026557 | intron variant | A/G | snv | 0.24 | 13 | ||
rs3917225 | 0.807 | 0.160 | 2 | 102152842 | intron variant | A/G | snv | 0.36 | 6 | ||
rs2227869 | 0.790 | 0.240 | 13 | 102862735 | missense variant | G/A;C | snv | 4.3E-02 | 9 | ||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs768891111 | 0.851 | 0.080 | 14 | 103699474 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs709399 | 0.882 | 0.080 | 14 | 103701208 | 3 prime UTR variant | G/A | snv | 0.59 | 0.61 | 3 | |
rs1297812518 | 0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 | 9 | |
rs861530 | 0.732 | 0.320 | 14 | 103707786 | 3 prime UTR variant | T/C | snv | 0.65 | 13 | ||
rs34677591 | 0.742 | 0.120 | 11 | 112086941 | missense variant | G/A | snv | 7.5E-03 | 7.0E-03 | 12 | |
rs11214077 | 0.752 | 0.120 | 11 | 112087953 | missense variant | A/G | snv | 6.6E-03 | 6.7E-03 | 12 | |
rs360717 | 0.851 | 0.080 | 11 | 112164002 | 5 prime UTR variant | G/A | snv | 0.25 | 4 | ||
rs360718 | 0.827 | 0.120 | 11 | 112164016 | 5 prime UTR variant | A/C | snv | 0.26 | 5 | ||
rs187238 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 48 | |||
rs1946518 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 46 | ||
rs1946519 | 0.851 | 0.120 | 11 | 112164784 | intron variant | A/C | snv | 0.60 | 4 | ||
rs3783521 | 0.807 | 0.200 | 2 | 112786000 | upstream gene variant | G/A | snv | 0.26 | 8 | ||
rs1143623 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 29 | ||
rs200817352 | 1.000 | 0.080 | 2 | 113220126 | missense variant | G/A;C | snv | 2.0E-03; 4.0E-06 | 2 | ||
rs78201625 | 0.851 | 0.080 | 10 | 113577182 | missense variant | C/T | snv | 2.4E-03 | 1.8E-03 | 4 | |
rs7080536 | 0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 | 27 | |
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs121913255 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 26 | |||
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 |