Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28935468 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 17 | |||
rs61748421 | 0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv | 9 | |||
rs1057518946 | 0.882 | 0.080 | X | 71223816 | missense variant | G/T | snv | 8 | |||
rs61751364 | 0.882 | 0.120 | X | 154030944 | frameshift variant | CGGAT/- | delins | 4 | |||
rs73633565 | X | 13459192 | intergenic variant | A/G | snv | 0.14 | 1 | ||||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs165599 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 27 | ||
rs4818 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 27 | ||
rs4633 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 25 | |
rs165774 | 0.807 | 0.120 | 22 | 19965038 | 3 prime UTR variant | G/A | snv | 0.27 | 11 | ||
rs6269 | 0.827 | 0.240 | 22 | 19962429 | 5 prime UTR variant | A/G | snv | 0.38 | 10 | ||
rs6267 | 0.827 | 0.200 | 22 | 19962740 | missense variant | G/A;T | snv | 4.8E-05; 1.4E-02 | 9 | ||
rs373611092 | 0.925 | 0.160 | 22 | 19962794 | missense variant | A/G | snv | 8.4E-05 | 4.9E-05 | 5 | |
rs8136867 | 0.882 | 0.080 | 22 | 21850504 | intron variant | G/A | snv | 0.55 | 4 | ||
rs740603 | 0.925 | 0.040 | 22 | 19957654 | intron variant | A/G | snv | 0.48 | 3 | ||
rs1288779666 | 1.000 | 0.120 | 22 | 42128944 | missense variant | C/G | snv | 2 | |||
rs5993882 | 22 | 19950010 | intron variant | T/C;G | snv | 2 | |||||
rs76060075 | 1.000 | 0.120 | 22 | 42129185 | missense variant | C/G | snv | 2 | |||
rs887200 | 22 | 19976143 | intron variant | C/T | snv | 0.74 | 1 | ||||
rs2835859 | 0.925 | 0.200 | 21 | 37645860 | intron variant | T/C | snv | 0.16 | 3 | ||
rs2070995 | 1.000 | 0.040 | 21 | 37714662 | synonymous variant | T/C | snv | 0.80 | 0.85 | 2 | |
rs1172682117 | 21 | 38403690 | synonymous variant | T/G | snv | 4.0E-06 | 1 | ||||
rs2211843 | 21 | 37811882 | intron variant | G/C;T | snv | 1 | |||||
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs1044396 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 17 |