Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
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 | |||
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 54 | ||
rs10069690 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 53 | ||
rs2981582 | 0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 | 21 | ||
rs13387042 | 0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 | 16 | ||
rs8170 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 13 | |
rs700518 | 0.732 | 0.320 | 15 | 51236915 | synonymous variant | T/C | snv | 0.43 | 0.40 | 13 | |
rs10941679 | 0.763 | 0.120 | 5 | 44706396 | intergenic variant | A/G | snv | 0.25 | 11 | ||
rs2016347 | 0.790 | 0.160 | 15 | 98960571 | 3 prime UTR variant | G/A;T | snv | 9 | |||
rs2981579 | 0.776 | 0.280 | 10 | 121577821 | intron variant | A/G | snv | 0.53 | 8 | ||
rs4849887 | 0.807 | 0.080 | 2 | 120487546 | intergenic variant | T/A;C | snv | 7 | |||
rs17822931 | 0.827 | 0.080 | 16 | 48224287 | missense variant | C/G;T | snv | 4.0E-06; 0.22 | 0.13 | 7 | |
rs200847762 | 0.790 | 0.160 | 6 | 32129371 | missense variant | G/A | snv | 2.7E-04 | 1.4E-05 | 7 | |
rs4442975 | 0.827 | 0.120 | 2 | 217056046 | intergenic variant | G/T | snv | 0.47 | 7 | ||
rs4973768 | 0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 | 7 | ||
rs12443621 | 0.807 | 0.120 | 16 | 52514125 | intron variant | A/G | snv | 0.48 | 6 | ||
rs10771399 | 0.827 | 0.080 | 12 | 28002147 | intergenic variant | A/G | snv | 8.9E-02 | 5 | ||
rs16917302 | 0.851 | 0.080 | 10 | 62501439 | intron variant | A/C | snv | 0.18 | 5 | ||
rs6828523 | 0.851 | 0.080 | 4 | 174925275 | intron variant | C/A | snv | 0.20 | 4 | ||
rs13689 | 0.851 | 0.120 | 16 | 68834619 | 3 prime UTR variant | T/A;C;G | snv | 4 | |||
rs1432679 | 0.851 | 0.080 | 5 | 158817075 | intron variant | C/T | snv | 0.44 | 4 | ||
rs981782 | 0.851 | 0.080 | 5 | 45285616 | intron variant | A/C | snv | 0.34 | 4 | ||
rs1292011 | 0.851 | 0.080 | 12 | 115398717 | regulatory region variant | A/G | snv | 0.43 | 4 |