Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs72709458 | 0.882 | 0.040 | 5 | 1283640 | intron variant | C/A;T | snv | 5 | |||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs2736098 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 48 | |
rs10464870 | 0.882 | 0.040 | 8 | 129465577 | intron variant | C/T | snv | 0.80 | 3 | ||
rs16906252 | 0.732 | 0.200 | 10 | 129467281 | synonymous variant | C/T | snv | 5.5E-02 | 5.1E-02 | 19 | |
rs891835 | 0.851 | 0.120 | 8 | 129479506 | intron variant | T/G | snv | 0.17 | 5 | ||
rs2853669 | 0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 | 35 | ||
rs6470745 | 0.882 | 0.040 | 8 | 129629675 | intron variant | A/G | snv | 0.18 | 3 | ||
rs55705857 | 0.732 | 0.080 | 8 | 129633446 | intron variant | A/G | snv | 3.9E-02 | 16 | ||
rs4295627 | 0.763 | 0.200 | 8 | 129673211 | intron variant | T/G | snv | 0.17 | 11 | ||
rs1800925 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 37 | |||
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 52 | |
rs2243248 | 0.763 | 0.240 | 5 | 132672952 | upstream gene variant | T/A;C;G | snv | 9 | |||
rs1057519945 | 0.776 | 0.200 | 12 | 132673703 | missense variant | C/A;T | snv | 12 | |||
rs745934102 | 0.882 | 0.040 | 1 | 13607281 | missense variant | G/A | snv | 3.2E-05 | 1.4E-05 | 5 | |
rs374052197 | 0.882 | 0.040 | 1 | 13610421 | missense variant | G/A;T | snv | 8.0E-06 | 5 | ||
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 | ||
rs397507483 | 0.790 | 0.400 | 7 | 140753348 | missense variant | C/A;T | snv | 13 | |||
rs121913361 | 0.807 | 0.280 | 7 | 140753349 | missense variant | C/A;G;T | snv | 7 | |||
rs28357681 | 0.851 | 0.040 | MT | 14798 | missense variant | T/C | snv | 4 | |||
rs759610249 | 0.790 | 0.160 | 4 | 152323032 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 8 | |
rs866987936 | 0.752 | 0.240 | 4 | 152326214 | missense variant | C/A;G;T | snv | 12 | |||
rs747241612 | 0.752 | 0.240 | 4 | 152326215 | missense variant | G/C | snv | 4.0E-06 | 12 | ||
rs1200941109 | 0.882 | 0.040 | 2 | 15940679 | frameshift variant | C/-;CC | delins | 4 |