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 | 214 | |||
rs113211432 | 0.882 | 0.080 | 2 | 214767532 | frameshift variant | -/TG | delins | 3 | |||
rs886039958 | 0.882 | 0.080 | 17 | 43093956 | frameshift variant | A/-;AA | delins | 3 | |||
rs61764370 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 29 | ||
rs34434221 | 0.882 | 0.080 | 15 | 85579644 | missense variant | A/C | snv | 2.2E-02 | 2.2E-02 | 3 | |
rs4645959 | 0.882 | 0.080 | 8 | 127738294 | missense variant | A/C;G | snv | 1.6E-05; 2.3E-02 | 3 | ||
rs11075884 | 1.000 | 0.080 | 16 | 71321332 | intergenic variant | A/C;G | snv | 1 | |||
rs1801201 | 1.000 | 0.080 | 17 | 39723332 | missense variant | A/C;G | snv | 4.0E-06; 4.9E-03 | 1 | ||
rs1057519975 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 34 | |||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
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 | ||
rs16940 | 0.882 | 0.080 | 17 | 43093220 | synonymous variant | A/G | snv | 0.35 | 0.29 | 5 | |
rs1302297709 | 0.882 | 0.080 | 17 | 58703319 | missense variant | A/G | snv | 3 | |||
rs6960867 | 0.882 | 0.080 | 7 | 92083384 | missense variant | A/G | snv | 0.36 | 0.34 | 3 | |
rs398122697 | 0.925 | 0.080 | 17 | 43049170 | missense variant | A/G | snv | 4.0E-06 | 2 | ||
rs566164 | 1.000 | 0.080 | 6 | 109185258 | intron variant | A/G | snv | 0.73 | 2 | ||
rs1060915 | 1.000 | 0.080 | 17 | 43082453 | synonymous variant | A/G | snv | 0.35 | 0.30 | 1 | |
rs140510218 | 1.000 | 0.080 | 16 | 67621458 | synonymous variant | A/G | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs143282828 | 1.000 | 0.080 | 5 | 176968697 | missense variant | A/G | snv | 7.3E-04 | 7.3E-04 | 1 | |
rs397509062 | 1.000 | 0.080 | 17 | 43104223 | missense variant | A/G | snv | 1 | |||
rs1136201 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 34 | ||
rs77724903 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 23 | ||
rs1219648 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 17 | |||
rs80358505 | 1.000 | 0.080 | 13 | 32319249 | missense variant | A/G;T | snv | 1 |