Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
rs2271933 | 0.807 | 0.080 | 1 | 31626924 | missense variant | A/G | snv | 0.56 | 0.50 | 9 | |
rs10801153 | 0.925 | 0.080 | 1 | 192794818 | intron variant | G/A | snv | 0.27 | 3 | ||
rs11210604 | 0.925 | 0.080 | 1 | 42158001 | downstream gene variant | T/A;G | snv | 2 | |||
rs10454453 | 1.000 | 0.040 | 1 | 66206849 | intron variant | C/A | snv | 0.48 | 1 | ||
rs10801152 | 1.000 | 0.040 | 1 | 192792174 | intron variant | A/T | snv | 0.31 | 1 | ||
rs11805657 | 1.000 | 0.040 | 1 | 240955726 | intron variant | T/C | snv | 0.87 | 1 | ||
rs12061304 | 1.000 | 0.040 | 1 | 110695063 | intergenic variant | A/G | snv | 0.30 | 1 | ||
rs1819741 | 1.000 | 0.040 | 1 | 192815708 | intron variant | T/A;C | snv | 1 | |||
rs860554 | 1.000 | 0.040 | 1 | 201293304 | intron variant | C/G;T | snv | 1 | |||
rs3749034 | 0.827 | 0.040 | 2 | 170816965 | 5 prime UTR variant | G/A;T | snv | 6 | |||
rs2241165 | 1.000 | 0.040 | 2 | 170821869 | non coding transcript exon variant | C/T | snv | 0.63 | 1 | ||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs1050450 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 43 | |
rs4684677 | 0.742 | 0.360 | 3 | 10286769 | missense variant | T/A | snv | 0.10 | 6.6E-02 | 13 | |
rs1245554802 | 0.851 | 0.120 | 3 | 9765892 | splice acceptor variant | T/C | snv | 4.0E-06 | 5 | ||
rs771306418 | 0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins | 5 | |||
rs754635 | 1.000 | 0.040 | 3 | 42263639 | splice region variant | C/G;T | snv | 0.84; 5.6E-06 | 3 | ||
rs1799923 | 0.925 | 0.040 | 3 | 42264802 | 5 prime UTR variant | A/G | snv | 0.82 | 2 | ||
rs1800857 | 0.851 | 0.120 | 4 | 26489489 | splice region variant | A/G | snv | 0.17 | 0.18 | 4 | |
rs11724320 | 0.925 | 0.040 | 4 | 163346771 | intron variant | T/C | snv | 0.56 | 2 | ||
rs11946004 | 0.925 | 0.040 | 4 | 163351551 | synonymous variant | G/A;T | snv | 0.10; 4.0E-06 | 2 | ||
rs17035816 | 0.925 | 0.040 | 4 | 157167312 | intron variant | A/G | snv | 0.11 | 2 | ||
rs1800855 | 0.925 | 0.120 | 4 | 26489495 | intron variant | A/G;T | snv | 0.27 | 2 |