Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs7107217 | 0.882 | 0.160 | 11 | 129603795 | intron variant | A/C;G | snv | 1 | |||
rs35628 | 1.000 | 0.080 | 16 | 16077249 | intron variant | A/G | snv | 0.13 | 1 | ||
rs758814202 | 1.000 | 0.080 | 10 | 126066725 | missense variant | C/G | snv | 4.0E-06 | 1 | ||
rs587782652 | 0.851 | 0.320 | 11 | 108335105 | missense variant | T/C | snv | 3.2E-05 | 4.2E-05 | 1 | |
rs770641163 | 0.882 | 0.360 | 11 | 108365208 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 | 1 | ||
rs1262069856 | 1.000 | 0.080 | 2 | 214728724 | stop gained | C/T | snv | 1 | |||
rs61754118 | 1.000 | 0.080 | 2 | 214728798 | missense variant | T/C | snv | 7.7E-03 | 7.4E-03 | 1 | |
rs377294979 | 1.000 | 0.080 | 19 | 48961574 | missense variant | G/A;C | snv | 3.7E-05; 4.1E-06 | 1 | ||
rs1296005499 | 1.000 | 0.080 | 17 | 43045746 | missense variant | C/T | snv | 1 | |||
rs2227945 | 1.000 | 0.080 | 17 | 43092113 | missense variant | T/C;G | snv | 2.5E-03 | 1.0E-02 | 1 | |
rs80356923 | 0.882 | 0.200 | 17 | 43091891 | stop gained | C/A;T | snv | 9.9E-05 | 1 | ||
rs80357034 | 0.882 | 0.200 | 17 | 43067610 | missense variant | G/A;C;T | snv | 1 | |||
rs80357064 | 0.882 | 0.200 | 17 | 43106478 | stop lost | A/C;G | snv | 1.2E-05 | 1 | ||
rs80357336 | 0.925 | 0.080 | 17 | 43045711 | stop gained | G/C;T | snv | 1 | |||
rs80357635 | 0.882 | 0.200 | 17 | 43092302 | frameshift variant | CT/- | delins | 4.0E-06 | 1 | ||
rs80358972 | 0.742 | 0.480 | 13 | 32356472 | stop gained | C/A;T | snv | 8.0E-06; 3.2E-05 | 1 | ||
rs80359198 | 0.882 | 0.200 | 13 | 32394717 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 7.6E-05 | 1 | ||
rs587782462 | 1.000 | 0.080 | 16 | 23641140 | synonymous variant | C/A;T | snv | 1 | |||
rs587776650 | 0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 | 1 | ||
rs139399785 | 1.000 | 0.080 | 1 | 226380111 | stop gained | G/A;T | snv | 4.0E-06; 2.6E-04 | 1 | ||
rs121913286 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 1 | |||
rs397517201 | 0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv | 1 | |||
rs759151952 | 0.925 | 0.200 | 7 | 5987265 | frameshift variant | G/-;GG | delins | 7.0E-06 | 1 | ||
rs147394161 | 0.925 | 0.120 | 1 | 21598453 | missense variant | T/C | snv | 9.5E-03 | 1.0E-02 | 1 | |
rs6788895 | 0.882 | 0.080 | 3 | 150750021 | intron variant | G/T | snv | 0.18 | 1 |