Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1154454 | 0.925 | 0.120 | 4 | 99417185 | intron variant | A/G | snv | 0.22 | 2 | ||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs104893751 | 0.882 | 0.240 | 3 | 9750423 | missense variant | G/A;C | snv | 2.2E-03; 4.0E-06 | 5 | ||
rs147608663 | 1.000 | 0.120 | 5 | 97171338 | missense variant | A/G | snv | 2.8E-05; 8.1E-06 | 4.9E-05 | 1 | |
rs1805794 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 41 | |
rs7102764 | 0.925 | 0.120 | 11 | 88778092 | intron variant | A/T | snv | 0.50 | 2 | ||
rs2231142 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 56 | ||
rs2279776 | 1.000 | 0.120 | 9 | 8389364 | synonymous variant | C/G;T | snv | 0.50; 4.0E-06 | 1 | ||
rs11556218 | 0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 | 27 | |
rs4778889 | 0.683 | 0.480 | 15 | 81296654 | intron variant | T/C | snv | 0.24 | 24 | ||
rs1417080 | 0.925 | 0.120 | 9 | 79515946 | non coding transcript exon variant | T/C | snv | 0.35 | 2 | ||
rs7859384 | 0.882 | 0.120 | 9 | 79507370 | intron variant | A/C;G | snv | 6 | |||
rs9332 | 0.925 | 0.200 | 5 | 7900599 | 3 prime UTR variant | G/A | snv | 0.21 | 2 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs886039484 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 32 | |||
rs1057520001 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 23 | |||
rs1048943 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 88 | |
rs8081059 | 0.925 | 0.120 | 17 | 73072580 | intron variant | C/A | snv | 0.83 | 2 | ||
rs4903064 | 0.925 | 0.120 | 14 | 72812712 | intron variant | T/C | snv | 0.23 | 2 | ||
rs149617956 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 32 | |
rs1449964136 | 0.925 | 0.120 | 3 | 69936725 | start lost | G/A | snv | 8.0E-06 | 7.0E-06 | 2 | |
rs7105934 | 0.827 | 0.120 | 11 | 69424973 | upstream gene variant | G/A;C | snv | 5 | |||
rs1353702185 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 79 |