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 | |||
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 | ||
rs63749873 | 0.882 | 0.160 | 2 | 47795903 | stop gained | C/G | snv | 4.0E-06 | 1.4E-05 | 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 | ||
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 | |||
rs267608122 | 0.925 | 0.160 | 2 | 47806651 | missense variant | G/A;C | snv | 4 | |||
rs587779227 | 0.925 | 0.160 | 2 | 47800040 | missense variant | G/A | snv | 1.4E-05 | 4 | ||
rs63750119 | 0.925 | 0.160 | 2 | 47806282 | missense variant | G/A;T | snv | 4.0E-06 | 4 | ||
rs63750563 | 0.925 | 0.160 | 2 | 47800996 | stop gained | C/A;T | snv | 4.8E-06 | 4 | ||
rs63750741 | 0.827 | 0.200 | 2 | 47799329 | missense variant | T/C | snv | 1.2E-05 | 4 | ||
rs63750909 | 0.925 | 0.160 | 2 | 47799427 | stop gained | C/A;G;T | snv | 4.0E-06 | 4 | ||
rs730881816 | 0.925 | 0.160 | 2 | 47799788 | stop gained | C/A;G | snv | 4 | |||
rs1553414395 | 0.925 | 0.160 | 2 | 47801001 | stop gained | C/A;G;T | snv | 3 | |||
rs63750138 | 0.851 | 0.160 | 2 | 47800297 | missense variant | C/A;G;T | snv | 2.0E-05; 8.0E-06 | 3 | ||
rs864622153 | 1.000 | 0.160 | 2 | 47799674 | stop gained | C/A;G;T | snv | 4.0E-06 | 3 | ||
rs267608066 | 0.925 | 0.160 | 2 | 47798713 | stop gained | C/G;T | snv | 2 | |||
rs63750139 | 0.925 | 0.160 | 2 | 47806488 | stop gained | C/T | snv | 2 | |||
rs1553410230 | 1.000 | 0.160 | 2 | 47790975 | stop gained | C/A;T | snv | 1 | |||
rs63749973 | 0.925 | 0.160 | 2 | 47799679 | stop gained | G/A;T | snv | 2.4E-04 | 2.8E-05 | 1 | |
rs63751328 | 1.000 | 0.160 | 2 | 47805638 | missense variant | G/A;C | snv | 4.0E-06 | 1 | ||
rs267608058 | 0.851 | 0.200 | 2 | 47800130 | frameshift variant | TCAG/- | delins | 7.0E-06 | 6 |