Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 213 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs9282861 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 31 | |||
rs61764370 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 29 | ||
rs12255372 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 26 | |||
rs1057519975 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 21 | |||
rs2981582 | 0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 | 20 | ||
rs2046210 | 0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 | 17 | ||
rs1219648 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 16 | |||
rs13387042 | 0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 | 15 | ||
rs1131691036 | 0.851 | 0.080 | 17 | 7675207 | frameshift variant | GCA/CC | delins | 7 | |||
rs796096871 | 0.807 | 0.200 | 17 | 19909228 | missense variant | TG/CA | mnv | 6 | |||
rs2420946 | 0.851 | 0.160 | 10 | 121591810 | intron variant | T/C | snv | 0.56 | 4 | ||
rs876660702 | 0.851 | 0.160 | 17 | 43063333 | splice region variant | C/T | snv | 4 | |||
rs11200014 | 0.695 | 0.280 | 10 | 121575416 | intron variant | G/A;T | snv | 0.34 | 3 | ||
rs113211432 | 0.882 | 0.080 | 2 | 214767532 | frameshift variant | -/TG | delins | 3 | |||
rs1302297709 | 0.882 | 0.080 | 17 | 58703319 | missense variant | A/G | snv | 3 | |||
rs3112612 | 0.882 | 0.080 | 16 | 52601252 | intron variant | G/A | snv | 0.44 | 3 | ||
rs386654966 | 0.882 | 0.080 | 2 | 214767531 | missense variant | CA/AG;TG | mnv | 3 | |||
rs63750258 | 0.851 | 0.200 | 2 | 47800966 | stop gained | G/A;C;T | snv | 3 | |||
rs80357125 | 0.882 | 0.080 | 17 | 43063940 | missense variant | C/A;G;T | snv | 3 | |||
rs886039958 | 0.882 | 0.080 | 17 | 43093956 | frameshift variant | A/-;AA | delins | 3 | |||
rs28359178 | 0.882 | 0.280 | MT | 13708 | missense variant | G/A | snv | 2 | |||
rs1064795860 | 1.000 | 0.080 | 17 | 7675155 | missense variant | G/A | snv | 1 | |||
rs11075884 | 1.000 | 0.080 | 16 | 71321332 | intergenic variant | A/C;G | snv | 1 |