Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 96 | ||
rs118101777 | 0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 | 42 | |
rs55819519 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 40 | |
rs121913503 | 0.689 | 0.200 | 15 | 90088606 | missense variant | C/A;T | snv | 23 | |||
rs1131691021 | 0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv | 21 | |||
rs55705857 | 0.732 | 0.080 | 8 | 129633446 | intron variant | A/G | snv | 3.9E-02 | 16 | ||
rs483352909 | 0.752 | 0.160 | 12 | 132673664 | missense variant | G/A;C | snv | 1.6E-05 | 11 | ||
rs1034749666 | 0.776 | 0.160 | 21 | 33027257 | missense variant | G/A | snv | 9 | |||
rs1035938 | 0.776 | 0.120 | 19 | 47680514 | missense variant | C/G;T | snv | 0.29 | 8 | ||
rs587777627 | 0.807 | 0.080 | 19 | 50406444 | missense variant | T/C | snv | 7 | |||
rs12232780 | 0.807 | 0.080 | 19 | 11021404 | non coding transcript exon variant | G/A | snv | 0.23 | 6 | ||
rs2296212 | 0.827 | 0.080 | 9 | 2191309 | missense variant | C/G | snv | 0.17 | 0.17 | 5 | |
rs11133391 | 0.851 | 0.040 | 4 | 55501788 | intron variant | T/C | snv | 0.33 | 4 | ||
rs11672232 | 0.851 | 0.040 | 19 | 10995924 | missense variant | C/T | snv | 0.31 | 0.32 | 4 | |
rs4741651 | 0.851 | 0.040 | 9 | 2194030 | downstream gene variant | C/T | snv | 0.24 | 4 | ||
rs1052555 | 0.882 | 0.040 | 19 | 45352266 | synonymous variant | G/A | snv | 0.28 | 0.26 | 3 | |
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs1568503055 | 1.000 | 0.040 | 19 | 42287078 | frameshift variant | -/T | ins | 1 |