Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
rs486907 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 32 | |
rs1056827 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 24 | |
rs1042821 | 0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 | 16 | ||
rs63750875 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 15 | ||
rs63749993 | 0.882 | 0.200 | 2 | 47476424 | missense variant | T/G | snv | 8 | |||
rs63750741 | 0.827 | 0.200 | 2 | 47799329 | missense variant | T/C | snv | 1.2E-05 | 8 | ||
rs1114167806 | 0.827 | 0.200 | 2 | 47463096 | stop gained | ATGA/-;ATGAATGA | delins | 7 | |||
rs63749843 | 0.827 | 0.240 | 2 | 47803449 | stop gained | C/A;G;T | snv | 7 | |||
rs63751108 | 0.827 | 0.240 | 2 | 47429881 | stop gained | C/T | snv | 7 | |||
rs786201042 | 0.827 | 0.240 | 2 | 47783243 | stop gained | C/G;T | snv | 2.5E-05 | 7 | ||
rs267607940 | 0.851 | 0.240 | 2 | 47416430 | splice donor variant | G/A;T | snv | 6 | |||
rs267608058 | 0.851 | 0.200 | 2 | 47800130 | frameshift variant | TCAG/- | delins | 7.0E-06 | 6 | ||
rs587779157 | 0.827 | 0.240 | 2 | 47408486 | inframe deletion | GAAGTT/- | delins | 6 | |||
rs63749849 | 0.851 | 0.240 | 2 | 47429812 | stop gained | C/T | snv | 6 | |||
rs63749999 | 0.851 | 0.240 | 2 | 47801086 | stop gained | C/T | snv | 1.2E-05 | 6 | ||
rs63750042 | 0.925 | 0.240 | 2 | 47408415 | stop gained | C/G;T | snv | 4.0E-06 | 6 | ||
rs63750111 | 0.882 | 0.200 | 2 | 47800914 | stop gained | C/A;G | snv | 6 | |||
rs63750138 | 0.851 | 0.160 | 2 | 47800297 | missense variant | C/A;G;T | snv | 2.0E-05; 8.0E-06 | 6 | ||
rs63750508 | 0.851 | 0.240 | 2 | 47475126 | stop gained | C/G;T | snv | 6 | |||
rs63750617 | 0.851 | 0.160 | 2 | 47803473 | missense variant | C/G;T | snv | 4.0E-06; 9.5E-05 | 6 | ||
rs63750624 | 0.925 | 0.160 | 2 | 47410211 | missense variant | G/A | snv | 6 | |||
rs63750636 | 0.851 | 0.240 | 2 | 47476492 | stop gained | C/T | snv | 7.0E-06 | 6 | ||
rs63751017 | 0.851 | 0.240 | 2 | 47800714 | stop gained | C/A;T | snv | 1.4E-05 | 6 |