Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555523630 | 1.000 | 0.120 | 17 | 7668202 | intron variant | -/C | delins | 1 | |||
rs78378222 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 1 | ||
rs587781664 | 1.000 | 0.120 | 17 | 7669692 | splice acceptor variant | T/C | snv | 2 | |||
rs755394212 | 1.000 | 0.120 | 17 | 7670649 | stop gained | G/A;T | snv | 2.0E-05 | 1 | ||
rs1567541951 | 1.000 | 0.120 | 17 | 7670658 | stop gained | TGAGTTCCA/C | delins | 1 | |||
rs397516434 | 1.000 | 0.120 | 17 | 7670669 | missense variant | G/A;T | snv | 2 | |||
rs121912662 | 0.925 | 0.120 | 17 | 7670678 | missense variant | A/G | snv | 2 | |||
rs375338359 | 0.882 | 0.200 | 17 | 7670684 | missense variant | C/G;T | snv | 8.0E-06 | 3 | ||
rs730882029 | 0.882 | 0.200 | 17 | 7670685 | stop gained | G/A | snv | 3 | |||
rs17882252 | 0.925 | 0.120 | 17 | 7670694 | stop gained | C/A;G;T | snv | 8.0E-06; 6.4E-05 | 2 | ||
rs121912664 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 7 | ||
rs587782529 | 0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv | 3 | |||
rs730882028 | 1.000 | 0.120 | 17 | 7670709 | missense variant | C/A;G;T | snv | 4.0E-06 | 1 | ||
rs587782272 | 1.000 | 0.120 | 17 | 7670716 | splice acceptor variant | C/G;T | snv | 2 | |||
rs1131691033 | 1.000 | 0.120 | 17 | 7673534 | splice donor variant | C/- | delins | 2 | |||
rs11575997 | 0.925 | 0.200 | 17 | 7673534 | splice donor variant | C/A;G;T | snv | 2 | |||
rs11575996 | 1.000 | 0.120 | 17 | 7673535 | missense variant | C/A;T | snv | 2 | |||
rs1555524949 | 1.000 | 0.120 | 17 | 7673535 | frameshift variant | CTGA/- | del | 1 | |||
rs876659384 | 0.851 | 0.240 | 17 | 7673552 | stop gained | C/A | snv | 3 | |||
rs863224500 | 1.000 | 0.120 | 17 | 7673555 | stop gained | C/A;T | snv | 1 | |||
rs1567546196 | 0.925 | 0.200 | 17 | 7673579 | frameshift variant | G/- | delins | 2 | |||
rs764735889 | 1.000 | 0.120 | 17 | 7673579 | stop gained | G/A;T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs587781702 | 0.925 | 0.200 | 17 | 7673609 | splice acceptor variant | C/A;G;T | snv | 3 | |||
rs397516439 | 0.925 | 0.200 | 17 | 7673610 | splice acceptor variant | T/C | snv | 8.0E-06 | 3 | ||
rs1555525040 | 1.000 | 0.120 | 17 | 7673691 | splice donor variant | GCTTACCTCGCTT/- | delins | 1 |