Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1568710381 | 1.000 | 0.160 | 19 | 1221976 | missense variant | G/A | snv | 1 | |||
rs587778695 | 1.000 | 0.160 | 19 | 1223152 | missense variant | C/A;T | snv | 4.1E-06; 8.2E-05 | 1 | ||
rs730881984 | 1.000 | 0.160 | 19 | 1221977 | missense variant | G/A;T | snv | 5.6E-06 | 1 | ||
rs786201090 | 1.000 | 0.160 | 19 | 1221996 | missense variant | C/T | snv | 1 | |||
rs786202431 | 1.000 | 0.160 | 19 | 1223007 | missense variant | C/G;T | snv | 1 | |||
rs886037926 | 1.000 | 0.160 | 19 | 1220449 | missense variant | A/G | snv | 1 | |||
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 | |||
rs1131690950 | 1.000 | 0.160 | 19 | 1207204 | splice donor variant | G/A;C | snv | 2 | |||
rs886039554 | 1.000 | 0.160 | 19 | 1220506 | splice donor variant | G/T | snv | 2 | |||
rs1555735080 | 1.000 | 0.160 | 19 | 1207203 | splice donor variant | GTAAGTA/- | delins | 1 | |||
rs1555737480 | 1.000 | 0.160 | 19 | 1218502 | splice donor variant | T/C | snv | 1 | |||
rs1568690546 | 1.000 | 0.160 | 19 | 1207205 | splice donor variant | TAA/- | del | 1 | |||
rs1555738475 | 0.776 | 0.400 | 19 | 1220707 | frameshift variant | G/- | delins | 12 | |||
rs1131690917 | 1.000 | 0.160 | 19 | 1207066 | frameshift variant | GGG/-;G;GGGG | delins | 2 | |||
rs1131690949 | 1.000 | 0.160 | 19 | 1221320 | frameshift variant | -/G | delins | 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 | |||
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 | |||
rs1060499960 | 1.000 | 0.160 | 19 | 1223051 | frameshift variant | ACCGGTGG/- | delins | 1 | |||
rs1060499961 | 1.000 | 0.160 | 19 | 1207041 | frameshift variant | C/- | delins | 1 | |||
rs1555735001 | 1.000 | 0.160 | 19 | 1207091 | frameshift variant | -/AC | delins | 1 | |||
rs1555735008 | 1.000 | 0.160 | 19 | 1207093 | frameshift variant | C/- | del | 1 |