Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1568689930 | 1.000 | 0.160 | 19 | 1206993 | frameshift variant | -/C | delins | 1 | |||
rs1568689994 | 1.000 | 0.160 | 19 | 1207017 | frameshift variant | CT/- | delins | 1 | |||
rs121913324 | 1.000 | 0.160 | 19 | 1207022 | stop gained | C/T | snv | 3 | |||
rs1060499961 | 1.000 | 0.160 | 19 | 1207041 | frameshift variant | C/- | delins | 1 | |||
rs1568690161 | 1.000 | 0.160 | 19 | 1207064 | frameshift variant | -/T | delins | 1 | |||
rs1131690917 | 1.000 | 0.160 | 19 | 1207066 | frameshift variant | GGG/-;G;GGGG | delins | 2 | |||
rs137854584 | 1.000 | 0.160 | 19 | 1207082 | stop gained | G/T | snv | 1 | |||
rs1555735001 | 1.000 | 0.160 | 19 | 1207091 | frameshift variant | -/AC | delins | 1 | |||
rs778376925 | 1.000 | 0.160 | 19 | 1207093 | stop gained | C/A;G;T | snv | 1.2E-05 | 2 | ||
rs1555735008 | 1.000 | 0.160 | 19 | 1207093 | frameshift variant | C/- | del | 1 | |||
rs397518441 | 1.000 | 0.160 | 19 | 1207109 | frameshift variant | -/T | delins | 1 | |||
rs1555735014 | 1.000 | 0.160 | 19 | 1207112 | frameshift variant | C/- | del | 1 | |||
rs137853077 | 1.000 | 0.160 | 19 | 1207113 | missense variant | T/C | snv | 2 | |||
rs137853076 | 1.000 | 0.160 | 19 | 1207163 | stop gained | A/G;T | snv | 4.1E-06 | 2 | ||
rs1057520039 | 0.882 | 0.200 | 19 | 1207169 | stop gained | C/G;T | snv | 4 | |||
rs1555735080 | 1.000 | 0.160 | 19 | 1207203 | splice donor variant | GTAAGTA/- | delins | 1 | |||
rs1131690950 | 1.000 | 0.160 | 19 | 1207204 | splice donor variant | G/A;C | snv | 2 | |||
rs1568690546 | 1.000 | 0.160 | 19 | 1207205 | splice donor variant | TAA/- | del | 1 | |||
rs876658584 | 1.000 | 0.160 | 19 | 1218415 | splice acceptor variant | A/G | snv | 2 | |||
rs112675807 | 1.000 | 0.160 | 19 | 1218416 | splice acceptor variant | G/A;C;T | snv | 1 | |||
rs1057520040 | 1.000 | 0.160 | 19 | 1218449 | missense variant | A/G | snv | 1 | |||
rs1555737480 | 1.000 | 0.160 | 19 | 1218502 | splice donor variant | T/C | snv | 1 | |||
rs864622707 | 1.000 | 0.160 | 19 | 1219343 | frameshift variant | T/- | del | 1 | |||
rs587782424 | 1.000 | 0.160 | 19 | 1219346 | frameshift variant | TG/- | delins | 2 | |||
rs1060499958 | 1.000 | 0.160 | 19 | 1219356 | missense variant | T/C | snv | 1 |