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 | |||
rs70991108 | 0.807 | 0.280 | 5 | 80654344 | intron variant | -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT | ins | 0.51 | 6 | ||
rs1414323823 | 0.851 | 0.160 | 15 | 74722772 | frameshift variant | -/TCTCGGT | ins | 4.0E-06 | 4 | ||
rs483353122 | 0.851 | 0.200 | 13 | 32363410 | frameshift variant | -/AG | ins | 4 | |||
rs587781985 | 0.882 | 0.280 | 17 | 61780342 | frameshift variant | -/C | ins | 4.0E-06 | 4 | ||
rs80359266 | 0.882 | 0.200 | 13 | 32332668 | stop gained | -/TTAG | ins | 3 | |||
rs878855134 | 0.925 | 0.200 | 17 | 61801374 | frameshift variant | -/AG | ins | 3 | |||
rs878855140 | 0.925 | 0.200 | 17 | 61780936 | stop gained | -/GTTGTTGAAATATCAATTTGATATA | ins | 3 | |||
rs3215684 | 0.925 | 0.080 | 20 | 50578329 | intron variant | -/T;TC | ins | 0.62 | 2 | ||
rs1060502772 | 1.000 | 0.080 | 16 | 23635613 | frameshift variant | -/G | ins | 1 | |||
rs1567206823 | 1.000 | 0.080 | 16 | 23607916 | frameshift variant | -/A | ins | 1 | |||
rs1569112324 | 1.000 | 0.080 | 22 | 28695222 | frameshift variant | -/G | ins | 1 | |||
rs730881612 | 1.000 | 0.080 | 13 | 32355233 | frameshift variant | -/G | ins | 1 | |||
rs878855159 | 1.000 | 0.080 | 17 | 61808494 | frameshift variant | -/A | ins | 1 | |||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs386675647 | 0.790 | 0.240 | 4 | 69098619 | missense variant | AT/TC | mnv | 10 | |||
rs796096871 | 0.807 | 0.200 | 17 | 19909228 | missense variant | TG/CA | mnv | 6 | |||
rs386654966 | 0.882 | 0.080 | 2 | 214767531 | missense variant | CA/AG;TG | mnv | 3 | |||
rs587779358 | 0.925 | 0.200 | 13 | 32333295 | stop gained | CGA/TTT | mnv | 3 | |||
rs879255323 | 1.000 | 0.080 | 13 | 32332592 | stop gained | AATC/CATT | mnv | 1 | |||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs555607708 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 33 | |
rs180177135 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 27 | ||
rs80357796 | 0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del | 11 |