Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 213 | |||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 98 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 187 | |
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs2987983 | 0.882 | 0.080 | 14 | 64296935 | intron variant | A/G | snv | 0.40 | 3 | ||
rs587782555 | 0.882 | 0.080 | 2 | 214728935 | missense variant | A/G | snv | 7.0E-06 | 3 | ||
rs7759 | 0.882 | 0.080 | 11 | 119096581 | 3 prime UTR variant | A/G | snv | 0.30 | 3 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1219648 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 16 | |||
rs2790 | 0.925 | 0.160 | 18 | 673086 | 3 prime UTR variant | A/G;T | snv | 0.22 | 2 | ||
rs968728714 | 1.000 | 0.080 | 12 | 47904629 | start lost | A/G;T | snv | 1.5E-05; 7.4E-06 | 1 | ||
rs775144154 | 0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 | 38 | ||
rs121912654 | 0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 | 19 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs759412116 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 55 | ||
rs3218536 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 37 | ||
rs3741378 | 0.851 | 0.080 | 11 | 65641466 | missense variant | C/G;T | snv | 0.15 | 5 | ||
rs4986938 | 0.641 | 0.600 | 14 | 64233098 | 3 prime UTR variant | C/T | snv | 0.31 | 0.33 | 35 | |
rs2233679 | 0.763 | 0.360 | 19 | 9834678 | splice region variant | C/T | snv | 0.59 | 11 | ||
rs3212964 | 0.851 | 0.120 | 19 | 45417538 | intron variant | C/T | snv | 0.18 | 4 | ||
rs1059394 | 0.925 | 0.080 | 18 | 672792 | 3 prime UTR variant | C/T | snv | 0.40 | 2 | ||
rs373204088 | 1.000 | 0.080 | 12 | 46209126 | missense variant | C/T | snv | 4.1E-06 | 7.0E-06 | 1 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 |