Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs25925 | 0.925 | 0.040 | 5 | 111484055 | synonymous variant | G/C | snv | 0.75 | 0.83 | 2 | |
rs465899 | 0.882 | 0.160 | 5 | 112841474 | synonymous variant | G/A | snv | 0.65 | 0.60 | 3 | |
rs1804197 | 1.000 | 0.040 | 5 | 112844212 | 3 prime UTR variant | C/A | snv | 7.2E-02 | 2 | ||
rs1800497 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 56 | |
rs167771 | 0.827 | 0.280 | 3 | 114157428 | intron variant | G/A;T | snv | 5 | |||
rs12531289 | 1.000 | 0.040 | 7 | 114600061 | intron variant | T/A | snv | 0.73 | 2 | ||
rs1350135 | 1.000 | 0.040 | 7 | 114602621 | intron variant | C/A;G;T | snv | 2 | |||
rs10230087 | 1.000 | 0.040 | 7 | 114614352 | intron variant | G/A | snv | 0.73 | 2 | ||
rs2061183 | 1.000 | 0.040 | 7 | 114617959 | intron variant | C/G | snv | 0.73 | 2 | ||
rs201292141 | 1.000 | 0.040 | 11 | 115217961 | missense variant | T/G | snv | 3.9E-04 | 9.8E-05 | 1 | |
rs1858830 | 0.925 | 0.040 | 7 | 116672385 | 5 prime UTR variant | C/G | snv | 0.40 | 4 | ||
rs2896218 | 0.925 | 0.040 | 7 | 117279924 | intron variant | G/A | snv | 0.60 | 2 | ||
rs6950765 | 0.925 | 0.040 | 7 | 117281176 | intron variant | C/G | snv | 0.64 | 2 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1565532385 | 0.925 | 0.080 | 11 | 118374964 | frameshift variant | CA/- | del | 3 | |||
rs193024911 | 1.000 | 0.040 | 3 | 12151259 | missense variant | A/C;G | snv | 2.0E-05; 1.0E-04 | 1 | ||
rs762457833 | 1.000 | 0.040 | 3 | 12187389 | missense variant | G/C | snv | 9.8E-05 | 2.8E-05 | 1 | |
rs201551401 | 0.925 | 0.040 | 7 | 124746694 | missense variant | C/T | snv | 6.4E-05 | 1.4E-05 | 3 | |
rs375712202 | 1.000 | 0.040 | 11 | 124923339 | splice donor variant | C/T | snv | 9.6E-05 | 1.4E-05 | 1 | |
rs1881084 | 0.925 | 0.040 | 7 | 127704626 | intron variant | G/A | snv | 0.33 | 2 | ||
rs370911031 | 0.925 | 0.040 | 9 | 130219801 | missense variant | G/A | snv | 1.5E-04 | 8.4E-05 | 2 | |
rs886037776 | 0.925 | 0.280 | 9 | 137817477 | stop gained | G/A | snv | 2 | |||
rs28364997 | 0.807 | 0.120 | 5 | 1403013 | missense variant | G/A | snv | 5.3E-04 | 5.8E-04 | 9 |