Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1142345 | 0.776 | 0.280 | 6 | 18130687 | missense variant | T/C;G | snv | 3.7E-02 | 9 | ||
rs11545078 | 0.807 | 0.200 | 8 | 63026205 | missense variant | G/A | snv | 8.8E-02 | 7.8E-02 | 6 | |
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
rs116855232 | 0.742 | 0.400 | 13 | 48045719 | missense variant | C/T | snv | 2.8E-02 | 1.1E-02 | 12 | |
rs1169704167 | 0.882 | 0.120 | 11 | 108284370 | frameshift variant | -/T | delins | 8.0E-06 | 3 | ||
rs1188383936 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 102 | ||
rs1194008138 | 0.882 | 0.120 | 5 | 143400121 | missense variant | T/C | snv | 4.0E-06 | 3 | ||
rs11978267 | 0.763 | 0.240 | 7 | 50398606 | intron variant | A/G | snv | 0.25 | 9 | ||
rs1206846668 | 0.724 | 0.400 | 11 | 49185773 | missense variant | G/A | snv | 4.1E-06 | 16 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs121909646 | 0.882 | 0.120 | 13 | 28018504 | missense variant | T/A;G | snv | 3 | |||
rs121913448 | 0.827 | 0.120 | 9 | 130862976 | missense variant | G/A | snv | 5 | |||
rs121913451 | 0.851 | 0.160 | 9 | 130872903 | missense variant | C/A;G | snv | 4 | |||
rs121913459 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 25 | |||
rs121913488 | 0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv | 7 | |||
rs121913507 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 49 | |||
rs121913615 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 25 | ||
rs121913682 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 52 | |||
rs12402181 | 0.882 | 0.120 | 1 | 66628488 | mature miRNA variant | G/A | snv | 0.17 | 0.24 | 3 | |
rs12434881 | 0.882 | 0.120 | 14 | 23119433 | 5 prime UTR variant | G/A | snv | 0.36 | 3 | ||
rs1275561861 | 0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv | 23 | |||
rs12803915 | 0.882 | 0.120 | 11 | 65444508 | non coding transcript exon variant | G/A | snv | 0.16 | 0.17 | 3 | |
rs1296957097 | 0.882 | 0.120 | 22 | 28719401 | missense variant | A/G | snv | 3 | |||
rs1310678797 | 0.882 | 0.120 | 12 | 47857143 | missense variant | C/T | snv | 7.0E-06 | 3 | ||
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 |