Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3838646 | 0.827 | 0.320 | Y | 18991182 | intron variant | CA/- | del | 8 | |||
rs52812045 | 0.851 | 0.240 | Y | 18992540 | non coding transcript exon variant | G/A | snv | 7 | |||
rs1058818 | 0.925 | 0.200 | Y | 18991654 | intron variant | C/T | snv | 2 | |||
rs1058881 | 0.925 | 0.200 | Y | 18991085 | intron variant | C/T | snv | 2 | |||
rs28933979 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 70 | ||
rs267607161 | 0.742 | 0.360 | 18 | 31598580 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 | 16 | |
rs121918075 | 0.752 | 0.280 | 18 | 31598632 | missense variant | A/G | snv | 15 | |||
rs121918079 | 0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv | 10 | |||
rs11541796 | 0.807 | 0.280 | 18 | 31593011 | missense variant | A/G | snv | 9 | |||
rs121918090 | 0.790 | 0.240 | 18 | 31593026 | missense variant | G/C | snv | 8 | |||
rs28933981 | 0.807 | 0.200 | 18 | 31598647 | missense variant | C/T | snv | 1.5E-03 | 1.7E-03 | 8 | |
rs121918068 | 0.882 | 0.200 | 18 | 31592983 | missense variant | T/A;C | snv | 6 | |||
rs121918080 | 0.827 | 0.240 | 18 | 31595128 | missense variant | G/A;T | snv | 2.4E-05 | 6 | ||
rs121918082 | 0.827 | 0.280 | 18 | 31595244 | missense variant | G/C | snv | 6 | |||
rs1800458 | 0.851 | 0.280 | 18 | 31592902 | missense variant | G/A | snv | 5.1E-02 | 5.2E-02 | 5 | |
rs121918069 | 0.925 | 0.200 | 18 | 31595152 | missense variant | T/A;G | snv | 3 | |||
rs121918081 | 0.925 | 0.200 | 18 | 31595124 | missense variant | A/G | snv | 3 | |||
rs746303115 | 0.925 | 0.200 | 6 | 170561827 | missense variant | A/G | snv | 1.2E-05 | 3 | ||
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs150766139 | 0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 | 13 | |
rs34612342 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 32 | |
rs36053993 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 31 | |
rs1057517457 | 0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 | 6 | ||
rs730881833 | 0.827 | 0.160 | 1 | 45332242 | missense variant | C/A;T | snv | 4.0E-06; 2.8E-05 | 6 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 |