Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 213 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs368087026 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 33 | |||
rs1219648 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 16 | |||
rs2233678 | 0.732 | 0.360 | 19 | 9834503 | non coding transcript exon variant | G/A;C | snv | 14 | |||
rs2233679 | 0.763 | 0.360 | 19 | 9834678 | splice region variant | C/T | snv | 0.59 | 11 | ||
rs11655505 | 0.776 | 0.160 | 17 | 43126360 | intron variant | G/A | snv | 0.31 | 8 | ||
rs3212964 | 0.851 | 0.120 | 19 | 45417538 | intron variant | C/T | snv | 0.18 | 4 | ||
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 | ||
rs1059394 | 0.925 | 0.080 | 18 | 672792 | 3 prime UTR variant | C/T | snv | 0.40 | 2 | ||
rs2790 | 0.925 | 0.160 | 18 | 673086 | 3 prime UTR variant | A/G;T | snv | 0.22 | 2 | ||
rs7350 | 1.000 | 0.080 | 11 | 119094338 | 3 prime UTR variant | G/A | snv | 0.30 | 1 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs3218536 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 37 | ||
rs759412116 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 55 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs373204088 | 1.000 | 0.080 | 12 | 46209126 | missense variant | C/T | snv | 4.1E-06 | 7.0E-06 | 1 | |
rs182176585 | 1.000 | 0.080 | 13 | 41372227 | missense variant | G/A;C | snv | 1.3E-04; 4.3E-06 | 1 | ||
rs1625895 | 0.752 | 0.200 | 17 | 7674797 | non coding transcript exon variant | T/A;C;G | snv | 9.1E-06; 0.86; 4.5E-06 | 10 | ||
rs968728714 | 1.000 | 0.080 | 12 | 47904629 | start lost | A/G;T | snv | 1.5E-05; 7.4E-06 | 1 | ||
rs1351211430 | 0.851 | 0.120 | 19 | 45369118 | synonymous variant | G/A;C | snv | 8.0E-06 | 4 | ||
rs730881500 | 0.882 | 0.080 | 17 | 43045769 | missense variant | G/A | snv | 8.0E-06 | 3 |