Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2243250 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 61 | ||
rs2070874 | 0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 | 27 | |
rs2227284 | 0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv | 12 | |||
rs2243248 | 0.763 | 0.240 | 5 | 132672952 | upstream gene variant | T/A;C;G | snv | 9 | |||
rs79071878 | 0.827 | 0.240 | 5 | 132680652 | intron variant | ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- | del | 7 | |||
rs2243267 | 0.882 | 0.160 | 5 | 132678194 | intron variant | G/A;C | snv | 3 | |||
rs2243268 | 0.882 | 0.040 | 5 | 132678271 | intron variant | A/C | snv | 0.23 | 3 | ||
rs2243274 | 0.882 | 0.080 | 5 | 132679140 | intron variant | G/A | snv | 0.34 | 3 | ||
rs79908535 | 0.882 | 0.280 | 5 | 132679856 | missense variant | G/A | snv | 6.8E-05 | 2.8E-05 | 3 | |
rs2243289 | 0.882 | 0.240 | 5 | 132682440 | intron variant | A/G | snv | 0.26 | 0.23 | 3 | |
rs2243270 | 0.925 | 0.120 | 5 | 132678417 | intron variant | A/G;T | snv | 2 | |||
rs202011365 | 0.925 | 0.080 | 5 | 132679748 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs2243290 | 0.925 | 0.120 | 5 | 132682477 | intron variant | C/A | snv | 0.27 | 0.25 | 2 | |
rs4986964 | 1.000 | 0.080 | 5 | 132674129 | missense variant | T/C | snv | 1 | |||
rs1220579705 | 1.000 | 0.080 | 5 | 132674079 | missense variant | C/T | snv | 1 | |||
rs2243282 | 1.000 | 0.040 | 5 | 132680862 | intron variant | C/A;T | snv | 1 | |||
rs1329751852 | 1.000 | 0.080 | 5 | 132679759 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs1196477957 | 1.000 | 0.080 | 5 | 132679782 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs1440526066 | 1.000 | 0.040 | 5 | 132679827 | missense variant | G/A | snv | 1 | |||
rs146713238 | 1.000 | 0.120 | 5 | 132679861 | missense variant | G/A | snv | 3.2E-05 | 8.4E-05 | 1 | |
rs779716790 | 1.000 | 0.040 | 5 | 132679877 | missense variant | G/A | snv | 8.1E-06 | 1 | ||
rs8179190 | 1.000 | 0.040 | 5 | 132680584 | intron variant | AAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAATG/- | delins | 1 |