Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1481318368 | 0.827 | 0.120 | 11 | 2169802 | missense variant | C/T | snv | 10 | |||
rs121917763 | 0.925 | 0.040 | 11 | 2167896 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 5 | |
rs2070762 | 0.925 | 0.080 | 11 | 2165105 | intron variant | A/G | snv | 0.43 | 5 | ||
rs6356 | 0.827 | 0.240 | 11 | 2169721 | missense variant | C/T | snv | 0.43 | 0.32 | 5 | |
rs121917762 | 0.925 | 0.040 | 11 | 2165727 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 3 | ||
rs3842727 | 1.000 | 0.120 | 11 | 2163618 | upstream gene variant | G/T | snv | 0.58 | 3 | ||
rs75183227 | 0.882 | 0.080 | 11 | 2169790 | missense variant | C/A | snv | 3 | |||
rs771610752 | 0.925 | 0.040 | 11 | 2168614 | stop gained | G/A | snv | 6.2E-05 | 2.1E-05 | 3 | |
rs80338892 | 1.000 | 0.040 | 11 | 2167905 | missense variant | C/T | snv | 1.1E-04 | 1.4E-04 | 3 | |
rs10770141 | 1.000 | 0.120 | 11 | 2172610 | upstream gene variant | A/C;G | snv | 2 | |||
rs1003880422 | 0.925 | 0.080 | 11 | 2166716 | missense variant | G/A;T | snv | 6.9E-06 | 2 | ||
rs1213545562 | 1.000 | 0.080 | 11 | 2166984 | synonymous variant | G/A | snv | 9.6E-06 | 2 | ||
rs1384915680 | 1.000 | 0.080 | 11 | 2166903 | synonymous variant | G/A | snv | 4.3E-06 | 2 | ||
rs367874223 | 0.925 | 0.040 | 11 | 2165337 | missense variant | C/G;T | snv | 2.4E-05 | 2 | ||
rs45471299 | 1.000 | 0.040 | 11 | 2164339 | missense variant | G/A | snv | 4.0E-05 | 2.1E-05 | 2 | |
rs1057516716 | 1.000 | 0.040 | 11 | 2171774 | frameshift variant | -/G | delins | 1 | |||
rs1372180906 | 11 | 2171856 | 5 prime UTR variant | C/T | snv | 7.0E-06 | 1 | ||||
rs201932766 | 1.000 | 0.040 | 11 | 2171785 | start lost | A/G | snv | 8.2E-06 | 7.0E-06 | 1 | |
rs1057516491 | 1.000 | 0.040 | 11 | 2166689 | frameshift variant | C/- | del | 1 | |||
rs1057516712 | 1.000 | 0.040 | 11 | 2167011 | frameshift variant | C/- | del | 1 | |||
rs1057516736 | 1.000 | 0.040 | 11 | 2166632 | splice donor variant | C/T | snv | 1 | |||
rs1057516819 | 1.000 | 0.040 | 11 | 2166001 | splice donor variant | C/T | snv | 1 | |||
rs1057516874 | 1.000 | 0.040 | 11 | 2169855 | splice acceptor variant | CAATGAACCGCGGGGACTGTGGGGAC/- | delins | 1 | |||
rs1057517003 | 1.000 | 0.040 | 11 | 2168489 | splice donor variant | A/G | snv | 1 | |||
rs1057517162 | 1.000 | 0.040 | 11 | 2166530 | frameshift variant | G/- | del | 1 |