Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555738723 | 1.000 | 0.160 | 19 | 1221329 | frameshift variant | A/- | del | 1 | |||
rs1555738863 | 1.000 | 0.160 | 19 | 1221969 | frameshift variant | CCAAG/- | delins | 1 | |||
rs1555738874 | 1.000 | 0.160 | 19 | 1221979 | frameshift variant | -/TCCATCC | delins | 1 | |||
rs1555738899 | 1.000 | 0.160 | 19 | 1222004 | frameshift variant | CA/TCC | delins | 1 | |||
rs1568689930 | 1.000 | 0.160 | 19 | 1206993 | frameshift variant | -/C | delins | 1 | |||
rs1568689994 | 1.000 | 0.160 | 19 | 1207017 | frameshift variant | CT/- | delins | 1 | |||
rs1568690161 | 1.000 | 0.160 | 19 | 1207064 | frameshift variant | -/T | delins | 1 | |||
rs397518441 | 1.000 | 0.160 | 19 | 1207109 | frameshift variant | -/T | delins | 1 | |||
rs587776656 | 1.000 | 0.160 | 19 | 1221321 | frameshift variant | G/- | del | 1 | |||
rs587776657 | 1.000 | 0.160 | 19 | 1220699 | frameshift variant | TCGG/- | delins | 1 | |||
rs587776659 | 1.000 | 0.160 | 19 | 1221310 | frameshift variant | TG/- | delins | 1 | |||
rs587776661 | 1.000 | 0.160 | 19 | 1221976 | frameshift variant | G/- | delins | 1 | |||
rs786205864 | 1.000 | 0.160 | 19 | 1221321 | frameshift variant | -/C | delins | 1 | |||
rs864622707 | 1.000 | 0.160 | 19 | 1219343 | frameshift variant | T/- | del | 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 | |||
rs121913315 | 0.882 | 0.160 | 19 | 1220488 | missense variant | G/A;T | snv | 5 | |||
rs1057520038 | 0.925 | 0.160 | 19 | 1220627 | missense variant | G/A | snv | 2 | |||
rs137853077 | 1.000 | 0.160 | 19 | 1207113 | missense variant | T/C | snv | 2 | |||
rs730881979 | 1.000 | 0.160 | 19 | 1220434 | missense variant | G/A | snv | 2 |