Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 47 | |
rs16893344 | 0.807 | 0.160 | 8 | 133194036 | intron variant | C/T | snv | 0.29 | 6 | ||
rs8176746 | 0.882 | 0.160 | 9 | 133255935 | missense variant | G/A;T | snv | 4.1E-06; 0.12 | 4 | ||
rs766914563 | 0.732 | 0.320 | 2 | 136115082 | synonymous variant | C/T | snv | 7.0E-06 | 16 | ||
rs371074389 | 0.732 | 0.320 | 2 | 136115226 | synonymous variant | C/T | snv | 4.0E-06 | 4.2E-05 | 16 | |
rs781172058 | 0.732 | 0.320 | 2 | 136115340 | synonymous variant | C/T | snv | 4.0E-06 | 16 | ||
rs770327175 | 0.851 | 0.120 | 2 | 136115878 | missense variant | C/A;T | snv | 8.0E-06 | 5 | ||
rs895819 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 46 | |
rs11671784 | 0.790 | 0.240 | 19 | 13836482 | non coding transcript exon variant | G/A | snv | 1.2E-02 | 1.2E-02 | 9 | |
rs752021744 | 0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 | 29 | ||
rs121913364 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 23 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 484 | ||
rs121913227 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 31 | |||
rs3748093 | 0.925 | 0.120 | 7 | 140800651 | intron variant | T/A | snv | 1.5E-02 | 4 | ||
rs2607775 | 0.807 | 0.160 | 3 | 14178595 | 5 prime UTR variant | C/G | snv | 0.42 | 0.43 | 8 | |
rs2294008 | 0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 | 27 | |
rs2976392 | 0.724 | 0.240 | 8 | 142681514 | 3 prime UTR variant | G/A | snv | 0.46 | 0.45 | 15 | |
rs4705341 | 0.882 | 0.120 | 5 | 149426373 | non coding transcript exon variant | A/G | snv | 0.13 | 3 | ||
rs2070744 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 53 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs2881766 | 0.882 | 0.120 | 6 | 151797984 | intron variant | T/G | snv | 0.35 | 5 | ||
rs1455751791 | 0.882 | 0.120 | 6 | 152011735 | synonymous variant | C/G | snv | 4.0E-06 | 3 | ||
rs10053538 | 0.807 | 0.160 | 5 | 157110499 | intron variant | C/A;T | snv | 7 | |||
rs3816527 | 0.882 | 0.160 | 3 | 157437525 | missense variant | C/A | snv | 0.64 | 0.64 | 9 |