Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6318 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 42 | |||
rs397514679 | 0.790 | 0.200 | X | 47574321 | stop gained | G/A | snv | 9 | |||
rs2072621 | 0.851 | 0.080 | X | 151177387 | non coding transcript exon variant | C/A;G | snv | 7 | |||
rs13440581 | 0.882 | 0.080 | X | 151181399 | missense variant | A/G | snv | 0.45 | 0.45 | 5 | |
rs561077 | 0.882 | 0.080 | X | 151181177 | missense variant | A/G | snv | 0.43 | 0.45 | 4 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs1232898090 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 40 | ||
rs749437638 | 0.752 | 0.240 | 22 | 19968597 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 14 | |
rs165774 | 0.807 | 0.120 | 22 | 19965038 | 3 prime UTR variant | G/A | snv | 0.27 | 11 | ||
rs2298383 | 0.827 | 0.200 | 22 | 24429543 | non coding transcript exon variant | C/A;T | snv | 11 | |||
rs6267 | 0.827 | 0.200 | 22 | 19962740 | missense variant | G/A;T | snv | 4.8E-05; 1.4E-02 | 9 | ||
rs738499 | 0.851 | 0.120 | 22 | 41381096 | intron variant | G/T | snv | 0.76 | 9 | ||
rs174697 | 0.851 | 0.080 | 22 | 19966309 | intron variant | A/G | snv | 0.88 | 5 | ||
rs3757 | 0.851 | 0.160 | 22 | 20111808 | 3 prime UTR variant | G/A | snv | 0.21 | 5 | ||
rs766020740 | 0.851 | 0.120 | 22 | 19963644 | missense variant | C/A | snv | 4.0E-06 | 5 | ||
rs17759843 | 0.882 | 0.080 | 22 | 21920372 | 3 prime UTR variant | G/A | snv | 6.7E-02 | 4 | ||
rs174696 | 0.925 | 0.080 | 22 | 19965653 | intron variant | C/A;T | snv | 3 | |||
rs9722 | 0.776 | 0.200 | 21 | 46599326 | 3 prime UTR variant | G/A | snv | 0.16; 2.4E-05 | 0.21 | 9 | |
rs11911834 | 0.882 | 0.080 | 21 | 46602608 | 5 prime UTR variant | G/A;T | snv | 4 | |||
rs74315401 | 0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv | 32 | |||
rs1044396 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 17 | ||
rs1044397 | 0.851 | 0.160 | 20 | 63349752 | synonymous variant | C/T | snv | 0.48 | 0.41 | 7 | |
rs2740210 | 0.827 | 0.120 | 20 | 3072609 | downstream gene variant | C/A | snv | 0.28 | 7 | ||
rs2075650 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 45 | |
rs34436714 | 0.851 | 0.120 | 19 | 53824059 | missense variant | C/A;T | snv | 0.22 | 7 |