Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs35119871 | 17 | 7664197 | intron variant | C/T | snv | 0.22 | 1 | ||||
rs9894946 | 0.925 | 0.160 | 17 | 7667762 | intron variant | A/C;G | snv | 2 | |||
rs17880560 | 17 | 7668169 | intron variant | -/TGGCCG | delins | 2 | |||||
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 | 37 | ||
rs17884306 | 0.925 | 0.120 | 17 | 7668783 | 3 prime UTR variant | C/T | snv | 5.1E-02 | 2 | ||
rs17879353 | 0.925 | 0.040 | 17 | 7668996 | 3 prime UTR variant | G/C;T | snv | 2 | |||
rs749817236 | 1.000 | 0.040 | 17 | 7669624 | frameshift variant | C/- | delins | 1 | |||
rs587783064 | 0.851 | 0.120 | 17 | 7669626 | missense variant | C/A;T | snv | 5 | |||
rs863224682 | 1.000 | 0.080 | 17 | 7669655 | missense variant | C/A;T | snv | 4.0E-06 | 2 | ||
rs587781858 | 0.742 | 0.360 | 17 | 7669671 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 12 | ||
rs876658982 | 17 | 7669691 | splice acceptor variant | C/T | snv | 1 | |||||
rs587781664 | 1.000 | 0.120 | 17 | 7669692 | splice acceptor variant | T/C | snv | 2 | |||
rs768803947 | 0.882 | 0.080 | 17 | 7670624 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 3 | ||
rs1555524354 | 0.925 | 0.080 | 17 | 7670626 | frameshift variant | C/- | delins | 5 | |||
rs1555524370 | 0.925 | 0.080 | 17 | 7670632 | frameshift variant | T/- | del | 5 | |||
rs773553186 | 1.000 | 0.080 | 17 | 7670636 | missense variant | T/A | snv | 2.0E-05 | 2.1E-05 | 1 | |
rs587782237 | 0.882 | 0.080 | 17 | 7670637 | missense variant | C/T | snv | 3 | |||
rs766786605 | 1.000 | 0.120 | 17 | 7670643 | missense variant | C/G;T | snv | 2 | |||
rs755394212 | 1.000 | 0.120 | 17 | 7670649 | stop gained | G/A;T | snv | 2.0E-05 | 1 | ||
rs141402957 | 1.000 | 0.040 | 17 | 7670658 | missense variant | T/C | snv | 1 | |||
rs1567541951 | 1.000 | 0.120 | 17 | 7670658 | stop gained | TGAGTTCCA/C | delins | 1 | |||
rs1131691008 | 17 | 7670659 | frameshift variant | AG/- | delins | 1 | |||||
rs1567541975 | 1.000 | 0.120 | 17 | 7670664 | stop gained | C/A | snv | 1 | |||
rs397516434 | 1.000 | 0.120 | 17 | 7670669 | missense variant | G/A;T | snv | 3 |