Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs324420 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 48 | |
rs4606 | 0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv | 16 | |||
rs6330 | 0.763 | 0.240 | 1 | 115286692 | missense variant | G/A | snv | 0.37 | 0.36 | 12 | |
rs57875989 | 0.882 | 0.080 | 1 | 7829913 | splice acceptor variant | GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC/-;GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC | delins | 0.11 | 0.18 | 7 | |
rs228697 | 0.882 | 0.080 | 1 | 7827519 | missense variant | C/G | snv | 8.7E-02 | 7.3E-02 | 5 | |
rs2478813 | 0.882 | 0.080 | 1 | 208073865 | intron variant | A/G | snv | 0.85 | 4 | ||
rs10801153 | 0.925 | 0.080 | 1 | 192794818 | intron variant | G/A | snv | 0.27 | 3 | ||
rs7528604 | 0.925 | 0.040 | 1 | 65941669 | intron variant | G/A | snv | 0.42 | 3 | ||
rs112146896 | 1.000 | 0.040 | 1 | 15418527 | intron variant | A/C;G;T | snv | 2 | |||
rs1192553 | 1 | 17967858 | intergenic variant | G/A | snv | 0.70 | 1 | ||||
rs4951043 | 1 | 204105737 | intron variant | C/T | snv | 0.51 | 1 | ||||
rs1143634 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 52 | |
rs8192506 | 1.000 | 0.040 | 2 | 119372265 | missense variant | A/C;G | snv | 4.0E-06; 2.5E-02 | 2 | ||
rs79928194 | 2 | 232784580 | intron variant | T/C | snv | 0.14 | 1 | ||||
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs53576 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 42 | |||
rs2254298 | 0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 | 23 | ||
rs2268498 | 0.827 | 0.080 | 3 | 8770725 | intron variant | T/C | snv | 0.41 | 7 | ||
rs1709393 | 1.000 | 0.080 | 3 | 101980310 | intron variant | C/T | snv | 0.55 | 2 | ||
rs9875578 | 3 | 13752941 | intergenic variant | G/A;C | snv | 1 | |||||
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs2071559 | 0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 | 26 | ||
rs1870377 | 0.695 | 0.520 | 4 | 55106807 | missense variant | T/A | snv | 0.22 | 0.20 | 25 | |
rs5522 | 0.732 | 0.320 | 4 | 148436323 | missense variant | C/T | snv | 0.88 | 0.89 | 19 |