Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs1800797 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 43 | ||
rs368087026 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 33 | |||
rs5742905 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 22 | |||
rs1039659576 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 21 | |||
rs63750264 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 17 | |||
rs1569686 | 0.752 | 0.400 | 20 | 32779273 | intron variant | G/A;C;T | snv | 15 | |||
rs61748421 | 0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv | 9 | |||
rs1457092 | 0.790 | 0.320 | 19 | 17193427 | intron variant | C/A | snv | 0.44 | 8 | ||
rs2435357 | 0.790 | 0.240 | 10 | 43086608 | intron variant | T/C | snv | 0.79 | 8 | ||
rs121912594 | 0.882 | 0.160 | 2 | 210675762 | missense variant | A/C | snv | 7 | |||
rs12325817 | 0.807 | 0.320 | 17 | 17583205 | intron variant | C/A;G;T | snv | 7 | |||
rs562625029 | 0.827 | 0.280 | 21 | 43058192 | stop gained | G/A | snv | 5 | |||
rs711 | 0.851 | 0.200 | 21 | 38823135 | 3 prime UTR variant | A/C;G | snv | 4 | |||
rs9878047 | 0.851 | 0.160 | 3 | 9943773 | intron variant | T/C | snv | 0.38 | 4 | ||
rs2506004 | 0.882 | 0.160 | 10 | 43086825 | intron variant | A/C;T | snv | 3 | |||
rs6962966 | 0.925 | 0.120 | 7 | 78174806 | intron variant | A/G | snv | 0.50 | 3 | ||
rs9024 | 0.882 | 0.160 | 21 | 36073015 | 3 prime UTR variant | G/A | snv | 9.7E-02 | 3 | ||
rs10763976 | 0.925 | 0.120 | 10 | 34275364 | intron variant | G/A | snv | 0.42 | 2 | ||
rs11254 | 0.925 | 0.120 | 21 | 38824464 | 3 prime UTR variant | C/T | snv | 0.34 | 2 | ||
rs1331959399 | 0.925 | 0.120 | 7 | 19117256 | synonymous variant | T/C | snv | 2 | |||
rs1496770 | 0.925 | 0.120 | 7 | 78629694 | intron variant | C/T | snv | 0.43 | 2 | ||
rs199683090 | 0.925 | 0.120 | 21 | 45531476 | missense variant | C/T | snv | 2 |