Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057520040 | 1.000 | 0.160 | 19 | 1218449 | missense variant | A/G | snv | 1 | |||
rs1057520041 | 1.000 | 0.160 | 19 | 1220438 | missense variant | T/A | snv | 1 | |||
rs1057520042 | 1.000 | 0.160 | 19 | 1222988 | missense variant | G/C | snv | 1 | |||
rs1060499958 | 1.000 | 0.160 | 19 | 1219356 | missense variant | T/C | snv | 1 | |||
rs1060499960 | 1.000 | 0.160 | 19 | 1223051 | frameshift variant | ACCGGTGG/- | delins | 1 | |||
rs1060499961 | 1.000 | 0.160 | 19 | 1207041 | frameshift variant | C/- | delins | 1 | |||
rs112675807 | 1.000 | 0.160 | 19 | 1218416 | splice acceptor variant | G/A;C;T | snv | 1 | |||
rs137853075 | 1.000 | 0.160 | 19 | 1221237 | stop gained | C/A;T | snv | 1 | |||
rs137853082 | 1.000 | 0.160 | 19 | 1220700 | stop gained | G/A;C | snv | 1 | |||
rs137853083 | 1.000 | 0.160 | 19 | 1221216 | stop gained | C/G;T | snv | 4.0E-06 | 1 | ||
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 | |||
rs1555735008 | 1.000 | 0.160 | 19 | 1207093 | frameshift variant | C/- | del | 1 | |||
rs1555735014 | 1.000 | 0.160 | 19 | 1207112 | frameshift variant | C/- | del | 1 | |||
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 | |||
rs1555737814 | 1.000 | 0.160 | 19 | 1219389 | frameshift variant | GT/- | del | 1 | |||
rs1555738219 | 1.000 | 0.160 | 19 | 1220431 | frameshift variant | -/GGACATCA | delins | 1 | |||
rs1555738319 | 1.000 | 0.160 | 19 | 1220580 | splice acceptor variant | G/A | snv | 1 | |||
rs1555738656 | 1.000 | 0.160 | 19 | 1221270 | frameshift variant | -/GA | delins | 1 | |||
rs1555738667 | 1.000 | 0.160 | 19 | 1221294 | frameshift variant | C/- | del | 1 | |||
rs1555738683 | 1.000 | 0.160 | 19 | 1221299 | frameshift variant | T/AC | delins | 1 | |||
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 |