Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs144495588 | 0.925 | 0.120 | 8 | 1771553 | stop gained | G/C;T | snv | 8.0E-06; 1.2E-05 | 2 | ||
rs154774640 | 0.925 | 0.120 | 15 | 68218584 | stop gained | G/C | snv | 8.0E-06 | 2.1E-05 | 2 | |
rs1554902052 | 0.925 | 0.120 | 11 | 6617430 | splice acceptor variant | T/C | snv | 2 | |||
rs202189057 | 0.925 | 0.120 | 11 | 6617695 | stop gained | A/T | snv | 4.0E-06 | 2 | ||
rs28940280 | 0.925 | 0.120 | 13 | 77000580 | missense variant | G/A | snv | 8.0E-06 | 2 | ||
rs386833645 | 0.925 | 0.120 | 1 | 40097236 | start lost | C/T | snv | 1.4E-05 | 2 | ||
rs386833651 | 0.925 | 0.120 | 1 | 40089409 | splice donor variant | C/T | snv | 2 | |||
rs386833659 | 0.925 | 0.120 | 1 | 40078659 | splice acceptor variant | C/A;T | snv | 4.0E-06 | 2 | ||
rs386833694 | 0.925 | 0.120 | 16 | 28482161 | missense variant | G/A;T | snv | 4.0E-06 | 2 | ||
rs386833695 | 0.925 | 0.120 | 16 | 28482160 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 2 | |
rs386833698 | 0.925 | 0.120 | 16 | 28482102 | splice region variant | T/G | snv | 2 | |||
rs386833709 | 0.925 | 0.120 | 16 | 28489298 | stop gained | G/A | snv | 1.4E-05 | 2 | ||
rs386833975 | 0.925 | 0.120 | 13 | 76995990 | missense variant | A/G | snv | 2 | |||
rs386833980 | 0.925 | 0.120 | 13 | 76996086 | stop gained | G/A | snv | 1.6E-05 | 3.5E-05 | 2 | |
rs398122959 | 0.925 | 0.120 | 11 | 6615199 | missense variant | A/C | snv | 4.0E-06 | 1.4E-05 | 2 | |
rs546989392 | 0.925 | 0.120 | 13 | 76996010 | stop gained | C/T | snv | 2.0E-05 | 7.7E-05 | 2 | |
rs587778809 | 0.925 | 0.120 | 4 | 127938781 | splice donor variant | A/T | snv | 8.0E-06 | 2.8E-05 | 2 | |
rs63751177 | 1.000 | 0.120 | 17 | 44351438 | stop gained | G/A | snv | 2 | |||
rs750428882 | 1.000 | 0.120 | 11 | 6616375 | missense variant | G/A;C | snv | 4.0E-06 | 2 | ||
rs763162812 | 0.925 | 0.120 | 11 | 6616720 | missense variant | T/A | snv | 1.6E-05 | 2.8E-05 | 2 | |
rs765380155 | 0.925 | 0.120 | 11 | 6616374 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 2 | |
rs786204753 | 0.925 | 0.120 | 11 | 6615217 | stop gained | C/T | snv | 2 | |||
rs1060502179 | 1.000 | 0.120 | 11 | 6618823 | missense variant | A/C | snv | 7.0E-06 | 1 | ||
rs1267314028 | 1.000 | 0.120 | 16 | 28486388 | synonymous variant | G/A | snv | 1 | |||
rs1564855860 | 1.000 | 0.120 | 11 | 6617769 | stop gained | G/C | snv | 1 |