Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11763020 | 1.000 | 0.040 | 7 | 1020652 | intron variant | C/T | snv | 0.12 | 1 | ||
rs941184 | 1.000 | 0.040 | 12 | 53720374 | intron variant | C/T | snv | 3.6E-02 | 1 | ||
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 | |
rs1800855 | 0.925 | 0.120 | 4 | 26489495 | intron variant | A/G;T | snv | 0.27 | 2 | ||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs4722999 | 0.851 | 0.080 | 7 | 30654159 | intron variant | C/T | snv | 0.67 | 5 | ||
rs3213207 | 0.776 | 0.120 | 6 | 15627871 | intron variant | T/C | snv | 8.7E-02 | 11 | ||
rs17466684 | 0.925 | 0.120 | 8 | 27595330 | downstream gene variant | G/A | snv | 0.15 | 5 | ||
rs324420 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 48 | |
rs2039391 | 1.000 | 0.040 | 9 | 20714015 | intron variant | C/T | snv | 0.86 | 1 | ||
rs4977831 | 1.000 | 0.040 | 9 | 20713069 | intron variant | A/G;T | snv | 1 | |||
rs3219151 | 0.752 | 0.160 | 5 | 161701908 | 3 prime UTR variant | C/T | snv | 0.51 | 14 | ||
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 | ||
rs4684677 | 0.742 | 0.360 | 3 | 10286769 | missense variant | T/A | snv | 0.10 | 6.6E-02 | 13 | |
rs4746 | 0.708 | 0.400 | 6 | 38682852 | missense variant | T/A;G | snv | 0.36 | 21 | ||
rs17035816 | 0.925 | 0.040 | 4 | 157167312 | intron variant | A/G | snv | 0.11 | 2 | ||
rs191260602 | 1.000 | 0.040 | 4 | 157140489 | intron variant | A/G | snv | 7.7E-03 | 1 | ||
rs1050450 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 43 | |
rs2271933 | 0.807 | 0.080 | 1 | 31626924 | missense variant | A/G | snv | 0.56 | 0.50 | 9 | |
rs6295 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 40 |