Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs780093 | 0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 | 30 | ||
rs2230774 | 0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 | 12 | ||
rs1367117 | 1.000 | 0.080 | 2 | 21041028 | missense variant | G/A | snv | 0.26 | 0.24 | 8 | |
rs679899 | 0.925 | 0.080 | 2 | 21028042 | missense variant | G/A | snv | 0.49 | 0.39 | 7 | |
rs13538 | 1.000 | 0.080 | 2 | 73641201 | missense variant | A/G | snv | 0.21 | 0.31 | 5 | |
rs6431731 | 1.000 | 0.080 | 2 | 15722878 | intron variant | C/T | snv | 0.97 | 4 | ||
rs3764913 | 1.000 | 0.080 | 2 | 210210185 | non coding transcript exon variant | T/C | snv | 0.30 | 0.27 | 3 | |
rs10178409 | 1.000 | 0.080 | 2 | 73628380 | downstream gene variant | G/T | snv | 0.26 | 2 | ||
rs142864856 | 1.000 | 0.080 | 2 | 151100757 | intergenic variant | CA/-;CACA;CACACA;CACACACA | delins | 2 | |||
rs16864170 | 1.000 | 0.080 | 2 | 5767748 | intergenic variant | T/C | snv | 3.8E-02 | 2 | ||
rs375811360 | 1.000 | 0.080 | 2 | 73643197 | intron variant | C/G | snv | 2 | |||
rs3770636 | 2 | 169346323 | intron variant | T/G | snv | 4.6E-02 | 2 | ||||
rs2271683 | 2 | 189009011 | missense variant | A/G | snv | 4.4E-03 | 1.6E-03 | 1 | |||
rs2887915 | 2 | 210689850 | intergenic variant | C/G;T | snv | 1 | |||||
rs478333 | 2 | 168922646 | 3 prime UTR variant | G/A | snv | 0.46 | 1 | ||||
rs6546837 | 2 | 73450771 | missense variant | G/C;T | snv | 0.27 | 1 | ||||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 | ||
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs5182 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 16 | |
rs995922697 | 0.724 | 0.560 | 3 | 49357413 | missense variant | A/G | snv | 4.1E-06 | 15 | ||
rs10865710 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 13 | ||
rs3816527 | 0.882 | 0.160 | 3 | 157437525 | missense variant | C/A | snv | 0.64 | 0.64 | 9 | |
rs5854292 | 0.851 | 0.080 | 3 | 168680960 | intron variant | AA/-;A;AAA | delins | 5 |