Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6136 | 0.752 | 0.440 | 1 | 169594713 | missense variant | T/G | snv | 8.2E-02 | 7.5E-02 | 17 | |
rs1037189404 | 0.776 | 0.280 | 1 | 155187519 | missense variant | C/T | snv | 8 | |||
rs766333007 | 0.776 | 0.280 | 1 | 155192274 | missense variant | C/T | snv | 7.0E-06 | 8 | ||
rs10919791 | 0.925 | 0.240 | 1 | 199996040 | intergenic variant | G/A | snv | 0.22 | 2 | ||
rs191544901 | 0.925 | 0.240 | 1 | 155187241 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
rs763861742 | 0.925 | 0.240 | 1 | 155187268 | missense variant | C/G;T | snv | 1.2E-05 | 2 | ||
rs11125529 | 0.882 | 0.280 | 2 | 54248729 | intron variant | C/A;T | snv | 3 | |||
rs183117027 | 1.000 | 0.120 | 2 | 21004340 | missense variant | C/T | snv | 5.1E-04 | 1.9E-04 | 1 | |
rs10936599 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 32 | |
rs762581936 | 0.827 | 0.240 | 3 | 195788569 | missense variant | C/G;T | snv | 1.1E-05; 1.1E-05 | 5 | ||
rs1374154597 | 1.000 | 0.120 | 3 | 136023097 | frameshift variant | -/G | delins | 2 | |||
rs397518481 | 0.925 | 0.120 | 3 | 25501230 | stop gained | C/G;T | snv | 2 | |||
rs9854771 | 0.925 | 0.240 | 3 | 189790682 | intron variant | G/A | snv | 0.34 | 2 | ||
rs7675998 | 0.827 | 0.360 | 4 | 163086668 | intergenic variant | A/G;T | snv | 5 | |||
rs67437265 | 0.925 | 0.160 | 4 | 71022523 | missense variant | C/T | snv | 1.8E-02 | 2.3E-02 | 2 | |
rs142836504 | 1.000 | 0.120 | 4 | 101098491 | missense variant | C/T | snv | 2.4E-04 | 8.4E-05 | 1 | |
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs401681 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 42 | ||
rs866832054 | 1.000 | 0.120 | 5 | 179820971 | missense variant | G/A | snv | 1 | |||
rs1800796 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 74 | ||
rs10273639 | 0.776 | 0.280 | 7 | 142749077 | upstream gene variant | T/A;C | snv | 9 | |||
rs1430937516 | 1.000 | 0.120 | 7 | 76510939 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
rs7779540 | 1.000 | 0.120 | 7 | 153925577 | intron variant | G/A | snv | 6.7E-02 | 1 | ||
rs1561927 | 0.807 | 0.280 | 8 | 128555832 | intron variant | C/T | snv | 0.65 | 6 | ||
rs2242241 | 0.925 | 0.200 | 8 | 21909370 | missense variant | A/C | snv | 1.0E-02 | 7.9E-03 | 2 |