Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3211719 | 1.000 | 0.040 | 13 | 113123195 | intron variant | A/G | snv | 0.21 | 1 | ||
rs121964941 | 0.925 | 0.120 | 13 | 113149170 | missense variant | T/C | snv | 2 | |||
rs5068 | 0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv | 13 | |||
rs3751142 | 1.000 | 0.040 | 12 | 121184616 | synonymous variant | G/T | snv | 0.14 | 0.12 | 1 | |
rs10846744 | 0.763 | 0.160 | 12 | 124827879 | intron variant | G/C | snv | 0.32 | 11 | ||
rs4242382 | 0.763 | 0.240 | 8 | 127505328 | intergenic variant | A/G;T | snv | 9 | |||
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 | 490 | ||
rs6570507 | 0.827 | 0.240 | 6 | 142358435 | intron variant | G/A | snv | 0.47 | 13 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs12041331 | 0.776 | 0.200 | 1 | 156899922 | intron variant | G/A | snv | 0.19 | 11 | ||
rs2814778 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 24 | ||
rs72653744 | 0.807 | 0.320 | 16 | 16163009 | stop gained | G/A | snv | 1.7E-04 | 1.2E-04 | 14 | |
rs2187952 | 1.000 | 0.040 | 1 | 169512712 | 3 prime UTR variant | G/A | snv | 0.26 | 1 | ||
rs11061937 | 1.000 | 0.040 | 12 | 1707447 | intron variant | T/C | snv | 0.31 | 2 | ||
rs1058322 | 1.000 | 0.040 | 12 | 1727813 | intron variant | C/T | snv | 0.30 | 2 | ||
rs16928751 | 0.925 | 0.120 | 12 | 1781033 | synonymous variant | G/A | snv | 0.11 | 0.14 | 3 | |
rs765371999 | 0.925 | 0.120 | 3 | 184355490 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs3737884 | 0.882 | 0.160 | 1 | 202944076 | non coding transcript exon variant | C/T | snv | 7.6E-02 | 3 | ||
rs573951598 | 0.882 | 0.200 | 2 | 218814408 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 3 | |
rs2383206 | 0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 | 17 | ||
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs120074192 | 0.763 | 0.120 | 11 | 2527959 | missense variant | A/G | snv | 10 | |||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 |