Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80359601 | 0.807 | 0.360 | 13 | 32340890 | frameshift variant | -/A;NNNNNNNN | ins | 4.1E-06 | 8 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs28366003 | 0.763 | 0.240 | 16 | 56608579 | upstream gene variant | A/C;G | snv | 4.6E-02 | 10 | ||
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs3742330 | 0.662 | 0.640 | 14 | 95087025 | 3 prime UTR variant | A/G | snv | 8.7E-02 | 24 | ||
rs148704956 | 0.716 | 0.360 | 6 | 52187772 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 19 | |
rs937283 | 0.716 | 0.200 | 12 | 68808384 | 5 prime UTR variant | A/G | snv | 0.37 | 19 | ||
rs769412 | 0.851 | 0.200 | 12 | 68839435 | synonymous variant | A/G | snv | 5.5E-02 | 7.5E-02 | 6 | |
rs2230600 | 0.827 | 0.160 | 4 | 86769845 | missense variant | A/G | snv | 0.18 | 0.14 | 5 | |
rs10088262 | 0.925 | 0.160 | 8 | 123753462 | intergenic variant | A/G | snv | 0.56 | 2 | ||
rs4646903 | 0.630 | 0.640 | 15 | 74719300 | downstream gene variant | A/G;T | snv | 0.18 | 36 | ||
rs13078 | 0.827 | 0.280 | 14 | 95090410 | 3 prime UTR variant | A/T | snv | 0.85 | 5 | ||
rs1216411295 | 1.000 | 0.120 | 10 | 6025837 | missense variant | A/T | snv | 4.0E-06 | 1 | ||
rs3802842 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 25 | ||
rs1056827 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 24 | |
rs1321311 | 0.742 | 0.160 | 6 | 36655123 | regulatory region variant | C/A | snv | 0.28 | 15 | ||
rs2298881 | 0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv | 25 | |||
rs771176824 | 1.000 | 0.120 | 7 | 101916181 | missense variant | C/A;T | snv | 1 | |||
rs1805794 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 41 | |
rs2735383 | 0.708 | 0.360 | 8 | 89935041 | 3 prime UTR variant | C/G | snv | 0.31 | 18 | ||
rs1378286181 | 1.000 | 0.120 | 19 | 1632076 | missense variant | C/G | snv | 7.0E-06 | 1 | ||
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 | ||
rs759412116 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 55 | ||
rs4253211 | 0.882 | 0.240 | 10 | 49470271 | missense variant | C/G;T | snv | 7.1E-02; 2.0E-05 | 3 |