Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555735001 | 1.000 | 0.160 | 19 | 1207091 | frameshift variant | -/AC | delins | 1 | |||
rs1568689930 | 1.000 | 0.160 | 19 | 1206993 | frameshift variant | -/C | delins | 1 | |||
rs786205864 | 1.000 | 0.160 | 19 | 1221321 | frameshift variant | -/C | delins | 1 | |||
rs1131690949 | 1.000 | 0.160 | 19 | 1221320 | frameshift variant | -/G | delins | 2 | |||
rs1555738656 | 1.000 | 0.160 | 19 | 1221270 | frameshift variant | -/GA | delins | 1 | |||
rs1555738219 | 1.000 | 0.160 | 19 | 1220431 | frameshift variant | -/GGACATCA | 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 | |||
rs1555738874 | 1.000 | 0.160 | 19 | 1221979 | frameshift variant | -/TCCATCC | delins | 1 | |||
rs1555738723 | 1.000 | 0.160 | 19 | 1221329 | frameshift variant | A/- | del | 1 | |||
rs727504172 | 1.000 | 0.160 | 19 | 1222983 | splice acceptor variant | A/C;T | snv | 1 | |||
rs876658584 | 1.000 | 0.160 | 19 | 1218415 | splice acceptor variant | A/G | snv | 2 | |||
rs886037859 | 1.000 | 0.160 | 19 | 1220450 | missense variant | A/G | snv | 2 | |||
rs1057520040 | 1.000 | 0.160 | 19 | 1218449 | missense variant | A/G | snv | 1 | |||
rs886037926 | 1.000 | 0.160 | 19 | 1220449 | missense variant | A/G | snv | 1 | |||
rs137853076 | 1.000 | 0.160 | 19 | 1207163 | stop gained | A/G;T | snv | 4.1E-06 | 2 | ||
rs397518443 | 0.925 | 0.200 | 19 | 1222998 | frameshift variant | AA/-;A | delins | 2 | |||
rs1060499960 | 1.000 | 0.160 | 19 | 1223051 | frameshift variant | ACCGGTGG/- | delins | 1 | |||
rs397518440 | 1.000 | 0.160 | 19 | 1219367 | frameshift variant | C/- | del | 2 | |||
rs1060499961 | 1.000 | 0.160 | 19 | 1207041 | frameshift variant | C/- | 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 | |||
rs1555738667 | 1.000 | 0.160 | 19 | 1221294 | frameshift variant | C/- | del | 1 | |||
rs730881976 | 0.882 | 0.240 | 19 | 1220702 | stop gained | C/A;G | snv | 4 | |||
rs778376925 | 1.000 | 0.160 | 19 | 1207093 | stop gained | C/A;G;T | snv | 1.2E-05 | 2 |