Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11254413 | 0.851 | 0.120 | 10 | 17162188 | missense variant | G/A | snv | 0.41 | 0.44 | 4 | |
rs207454 | 0.851 | 0.120 | 2 | 31344766 | intron variant | T/G | snv | 0.11 | 0.16 | 4 | |
rs2736109 | 0.851 | 0.120 | 5 | 1296644 | upstream gene variant | C/T | snv | 0.32 | 4 | ||
rs752681512 | 0.851 | 0.120 | 5 | 7897088 | missense variant | A/G | snv | 2.0E-05 | 4 | ||
rs7972 | 0.851 | 0.120 | 14 | 77326894 | missense variant | G/A | snv | 7.0E-02 | 7.0E-02 | 4 | |
rs353639 | 0.851 | 0.120 | 11 | 35162817 | intron variant | T/G | snv | 0.32 | 5 | ||
rs753535070 | 0.851 | 0.120 | 1 | 155187350 | missense variant | T/C | snv | 8.0E-06 | 5 | ||
rs1562430 | 0.807 | 0.160 | 8 | 127375606 | intron variant | T/C | snv | 0.41 | 6 | ||
rs80358829 | 0.827 | 0.120 | 13 | 32340327 | missense variant | C/T | snv | 6 | |||
rs828907 | 0.827 | 0.160 | 2 | 216108009 | intron variant | G/T | snv | 0.37 | 6 | ||
rs113593938 | 0.790 | 0.200 | 21 | 44250907 | missense variant | C/T | snv | 3.5E-03 | 7 | ||
rs17045754 | 0.790 | 0.280 | 2 | 54269620 | intron variant | G/A;C | snv | 7 | |||
rs1801200 | 0.790 | 0.200 | 17 | 39723335 | missense variant | A/G;T | snv | 7 | |||
rs2240688 | 0.790 | 0.160 | 4 | 15968726 | 3 prime UTR variant | T/G | snv | 0.22 | 7 | ||
rs2293303 | 0.827 | 0.200 | 3 | 41239336 | synonymous variant | C/T | snv | 3.2E-02 | 1.2E-02 | 7 | |
rs2808668 | 0.851 | 0.120 | 9 | 97690153 | intron variant | C/G;T | snv | 7 | |||
rs6917 | 0.790 | 0.200 | 17 | 49404181 | 3 prime UTR variant | G/A | snv | 0.16 | 7 | ||
rs6498486 | 0.776 | 0.200 | 16 | 13919809 | upstream gene variant | A/C | snv | 0.27 | 8 | ||
rs1520220 | 0.807 | 0.280 | 12 | 102402744 | intron variant | G/C;T | snv | 0.76 | 9 | ||
rs180177133 | 0.807 | 0.240 | 16 | 23614089 | frameshift variant | T/- | delins | 1.2E-05 | 1.4E-05 | 9 | |
rs2303428 | 0.776 | 0.240 | 2 | 47476361 | splice region variant | T/A;C;G | snv | 4.0E-06; 0.12 | 9 | ||
rs2856836 | 0.763 | 0.280 | 2 | 112774506 | 3 prime UTR variant | A/G | snv | 0.26 | 9 | ||
rs5277 | 0.790 | 0.160 | 1 | 186679065 | synonymous variant | C/G;T | snv | 0.12; 8.0E-06 | 9 | ||
rs6713088 | 0.763 | 0.200 | 2 | 54118332 | intron variant | C/G | snv | 0.48 | 9 | ||
rs7975 | 0.763 | 0.320 | 14 | 77326864 | stop gained | G/A;C;T | snv | 0.31 | 0.32 | 9 |