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 | |||
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 | |||
rs1057519718 | 0.925 | 0.160 | 7 | 140753355 | missense variant | CA/TC | mnv | 2 | |||
rs587780174 | 0.827 | 0.360 | 22 | 28695239 | frameshift variant | A/- | delins | 4.4E-05 | 5.6E-05 | 7 | |
rs730882018 | 0.851 | 0.320 | 17 | 7676153 | frameshift variant | G/-;GG | delins | 5 | |||
rs131821 | 0.851 | 0.160 | 22 | 50511648 | intron variant | T/-;TT;TTT;TTTT | delins | 4 | |||
rs149207840 | 0.851 | 0.160 | 2 | 230279864 | intron variant | CTGCCTC/-;CTGCCTCCTGCCTC | delins | 0.15 | 4 | ||
rs201425733 | 1.000 | 0.160 | 3 | 41901173 | intron variant | TTTTTTTTTTTTT/-;T;TT;TTT;TTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTT | delins | 1 | |||
rs201957963 | 1.000 | 0.160 | 3 | 41765956 | intron variant | -/TA | delins | 1 | |||
rs34101942 | 1.000 | 0.160 | 22 | 39167907 | intergenic variant | -/A | delins | 0.68 | 1 | ||
rs376773321 | 1.000 | 0.160 | 3 | 41856513 | intron variant | ATATATAT/-;AT;ATAT;ATATAT;ATATATATAT;ATATATATATAT;ATATATATATATAT;ATATATATATATATAT;ATATATATATATATATAT;ATATATATATATATATATAT;ATATATATATATATATATATAT | delins | 6.3E-02 | 1 | ||
rs577040336 | 1.000 | 0.160 | 3 | 41856512 | intron variant | -/AATATATATATA | delins | 1 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 |