Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3025058 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 26 | ||
rs879254712 | 0.827 | 0.200 | 19 | 11107470 | frameshift variant | C/- | del | 6 | |||
rs879254538 | 0.851 | 0.200 | 19 | 11105378 | frameshift variant | T/- | del | 5 | |||
rs1432422306 | 0.925 | 0.120 | 4 | 154586432 | frameshift variant | TTCCAGT/- | del | 4.0E-06 | 3 | ||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs121908027 | 0.882 | 0.160 | 19 | 11105557 | inframe deletion | TGG/- | delins | 5 | |||
rs34234989 | 0.882 | 0.120 | 20 | 35186731 | intron variant | A/- | delins | 0.40 | 5 | ||
rs875989898 | 0.851 | 0.200 | 19 | 11105220 | frameshift variant | C/-;CC | delins | 5 | |||
rs879255130 | 0.882 | 0.160 | 19 | 11120446 | frameshift variant | C/-;CC | delins | 5 | |||
rs879254885 | 0.882 | 0.160 | 19 | 11113552 | frameshift variant | CCAC/- | delins | 4 | |||
rs879254933 | 0.882 | 0.160 | 19 | 11113708 | frameshift variant | -/A | delins | 4 | |||
rs1555808111 | 0.925 | 0.160 | 19 | 11123284 | frameshift variant | -/GCTG | delins | 3 | |||
rs1396616608 | 1.000 | 0.080 | 1 | 155660237 | frameshift variant | G/- | delins | 7.0E-06 | 1 | ||
rs906600204 | 1.000 | 0.080 | 17 | 75569087 | frameshift variant | -/ACTT | delins | 1 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
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 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
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 | |
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 |