Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs874945 | 0.732 | 0.240 | 12 | 53961667 | upstream gene variant | C/T | snv | 0.38 | 14 | ||
rs7834169 | 0.925 | 0.120 | 8 | 27052774 | upstream gene variant | C/G | snv | 0.16 | 3 | ||
rs180127 | 0.925 | 0.040 | 17 | 69923642 | intergenic variant | G/A;C | snv | 2 | |||
rs1972597 | 1.000 | 0.040 | 17 | 77598082 | intron variant | T/C | snv | 0.31 | 2 | ||
rs3862188 | 1.000 | 0.040 | 1 | 247702471 | intron variant | T/C | snv | 0.44 | 2 | ||
rs229811 | 1.000 | 0.040 | 14 | 83448259 | intergenic variant | G/C | snv | 4.4E-02 | 1 | ||
rs1034220998 | 1.000 | 0.040 | 1 | 6339497 | synonymous variant | G/A | snv | 1 | |||
rs368731455 | 1.000 | 0.040 | 1 | 6281212 | missense variant | C/T | snv | 2.0E-05 | 1 | ||
rs758821654 | 1.000 | 0.040 | 1 | 6339437 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs765693356 | 1.000 | 0.040 | 1 | 6339527 | synonymous variant | G/A | snv | 1.2E-05 | 1 | ||
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs1573496 | 0.827 | 0.160 | 4 | 99428512 | missense variant | C/G | snv | 8.5E-02; 4.9E-04 | 7.8E-02 | 7 | |
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs2238151 | 1.000 | 0.040 | 12 | 111774029 | intron variant | T/C | snv | 0.52 | 3 | ||
rs26537 | 0.925 | 0.080 | 5 | 115841317 | 3 prime UTR variant | T/C;G | snv | 2 | |||
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs4663402 | 0.851 | 0.080 | 2 | 233285017 | intron variant | A/T | snv | 5.1E-02 | 4 | ||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 38 | ||
rs1257821596 | 1.000 | 0.040 | 20 | 3083027 | frameshift variant | -/C | delins | 7.0E-06 | 1 | ||
rs1023835002 | 0.763 | 0.280 | 15 | 44711547 | start lost | A/G;T | snv | 10 | |||
rs1057519877 | 0.763 | 0.280 | 15 | 44711549 | start lost | G/A | snv | 10 | |||
rs2032809 | 0.882 | 0.120 | 19 | 47232959 | upstream gene variant | T/C | snv | 0.66 | 3 | ||
rs749710704 | 0.790 | 0.160 | 5 | 79119289 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 7 | ||
rs4150351 | 0.925 | 0.160 | 13 | 102870617 | intron variant | A/C;T | snv | 2 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 |