Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555738475 | 0.776 | 0.400 | 19 | 1220707 | frameshift variant | G/- | delins | 12 | |||
rs121913315 | 0.882 | 0.160 | 19 | 1220488 | missense variant | G/A;T | snv | 5 | |||
rs1057520039 | 0.882 | 0.200 | 19 | 1207169 | stop gained | C/G;T | snv | 4 | |||
rs730881976 | 0.882 | 0.240 | 19 | 1220702 | stop gained | C/A;G | snv | 4 | |||
rs1085307466 | 1.000 | 0.160 | 19 | 1221990 | stop gained | C/T | snv | 3 | |||
rs121913324 | 1.000 | 0.160 | 19 | 1207022 | stop gained | C/T | snv | 3 | |||
rs1057520038 | 0.925 | 0.160 | 19 | 1220627 | missense variant | G/A | snv | 2 | |||
rs1131690917 | 1.000 | 0.160 | 19 | 1207066 | frameshift variant | GGG/-;G;GGGG | delins | 2 | |||
rs1131690920 | 1.000 | 0.160 | 19 | 1222007 | splice donor variant | G/A | snv | 2 | |||
rs1131690921 | 1.000 | 0.160 | 19 | 1221341 | splice donor variant | G/T | snv | 2 | |||
rs1131690940 | 1.000 | 0.160 | 19 | 1220641 | stop gained | C/T | snv | 2 | |||
rs1131690949 | 1.000 | 0.160 | 19 | 1221320 | frameshift variant | -/G | delins | 2 | |||
rs1131690950 | 1.000 | 0.160 | 19 | 1207204 | splice donor variant | G/A;C | snv | 2 | |||
rs121913320 | 1.000 | 0.160 | 19 | 1221265 | frameshift variant | TTTG/- | delins | 2 | |||
rs121913321 | 1.000 | 0.160 | 19 | 1221315 | frameshift variant | CC/-;C;CCC | delins | 2 | |||
rs137853076 | 1.000 | 0.160 | 19 | 1207163 | stop gained | A/G;T | snv | 4.1E-06 | 2 | ||
rs137853077 | 1.000 | 0.160 | 19 | 1207113 | missense variant | T/C | snv | 2 | |||
rs397518440 | 1.000 | 0.160 | 19 | 1219367 | frameshift variant | C/- | del | 2 | |||
rs397518443 | 0.925 | 0.200 | 19 | 1222998 | frameshift variant | AA/-;A | delins | 2 | |||
rs587782424 | 1.000 | 0.160 | 19 | 1219346 | frameshift variant | TG/- | delins | 2 | |||
rs730881979 | 1.000 | 0.160 | 19 | 1220434 | missense variant | G/A | snv | 2 | |||
rs778376925 | 1.000 | 0.160 | 19 | 1207093 | stop gained | C/A;G;T | snv | 1.2E-05 | 2 | ||
rs864622488 | 1.000 | 0.160 | 19 | 1222987 | stop gained | G/A;T | snv | 2 | |||
rs876658584 | 1.000 | 0.160 | 19 | 1218415 | splice acceptor variant | A/G | snv | 2 | |||
rs878853247 | 1.000 | 0.160 | 19 | 1220692 | missense variant | G/C;T | snv | 2 |