Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs63749843 | 0.827 | 0.240 | 2 | 47803449 | stop gained | C/A;G;T | snv | 7 | |||
rs267608058 | 0.851 | 0.200 | 2 | 47800130 | frameshift variant | TCAG/- | delins | 7.0E-06 | 6 | ||
rs63749999 | 0.851 | 0.240 | 2 | 47801086 | stop gained | C/T | snv | 1.2E-05 | 6 | ||
rs63751017 | 0.851 | 0.240 | 2 | 47800714 | stop gained | C/A;T | snv | 1.4E-05 | 6 | ||
rs786201042 | 0.827 | 0.240 | 2 | 47783243 | stop gained | C/G;T | snv | 2.5E-05 | 6 | ||
rs267608078 | 0.882 | 0.160 | 2 | 47803501 | frameshift variant | C/-;CC;CCC | delins | 5 | |||
rs63750617 | 0.851 | 0.160 | 2 | 47803473 | missense variant | C/G;T | snv | 4.0E-06; 9.5E-05 | 5 | ||
rs876660943 | 0.882 | 0.240 | 2 | 47806359 | splice donor variant | G/T | snv | 7.0E-06 | 5 | ||
rs63749873 | 0.882 | 0.160 | 2 | 47795903 | stop gained | C/G | snv | 4.0E-06 | 1.4E-05 | 5 | |
rs193922343 | 0.925 | 0.160 | 2 | 47806254 | frameshift variant | AGAA/-;AGAAAAGAA;AGAAAGAA | delins | 4 | |||
rs267608064 | 0.925 | 0.160 | 2 | 47799614 | frameshift variant | AAAA/-;AA | delins | 4 | |||
rs267608092 | 0.925 | 0.160 | 2 | 47803553 | frameshift variant | TT/-;T;TTT | delins | 4 | |||
rs267608120 | 0.925 | 0.160 | 2 | 47806606 | frameshift variant | CAAG/- | delins | 4 | |||
rs267608122 | 0.925 | 0.160 | 2 | 47806651 | missense variant | G/A;C | snv | 4 | |||
rs63750119 | 0.925 | 0.160 | 2 | 47806282 | missense variant | G/A;T | snv | 4.0E-06 | 4 | ||
rs63750741 | 0.827 | 0.200 | 2 | 47799329 | missense variant | T/C | snv | 1.2E-05 | 4 | ||
rs63750955 | 0.925 | 0.160 | 2 | 47798633 | frameshift variant | -/T | delins | 1.4E-05 | 4 | ||
rs63751327 | 0.925 | 0.160 | 2 | 47804984 | frameshift variant | -/A;AA | delins | 4 | |||
rs730881816 | 0.925 | 0.160 | 2 | 47799788 | stop gained | C/A;G | snv | 4 | |||
rs876661222 | 0.925 | 0.160 | 2 | 47806309 | stop gained | -/ATTA | delins | 4 | |||
rs1553333753 | 0.925 | 0.160 | 2 | 47806643 | splice donor variant | -/ATTT | delins | 4 | |||
rs267608077 | 0.925 | 0.160 | 2 | 47799112 | frameshift variant | AGAGA/- | delins | 4 | |||
rs267608094 | 0.925 | 0.160 | 2 | 47806641 | stop gained | C/A;T | snv | 4.1E-06; 4.1E-06 | 4 | ||
rs267608098 | 0.925 | 0.160 | 2 | 47804908 | splice acceptor variant | A/G;T | snv | 4 | |||
rs267608121 | 0.925 | 0.160 | 2 | 47806630 | frameshift variant | -/GTCA | delins | 4 |