Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs57221529 | 1.000 | 0.120 | 5 | 586509 | regulatory region variant | A/G | snv | 0.16 | 1 | ||
rs5952223 | 1.000 | 0.120 | X | 116255308 | intergenic variant | C/T | snv | 0.29 | 1 | ||
rs7879546 | 1.000 | 0.120 | X | 116217020 | intergenic variant | T/C | snv | 1 | |||
rs871799 | 1.000 | 0.120 | 1 | 203200743 | intergenic variant | C/G | snv | 0.18 | 1 | ||
rs9300298 | 1.000 | 0.120 | 12 | 1757038 | intron variant | T/A | snv | 0.55 | 1 | ||
rs747607158 | 1.000 | 0.120 | 4 | 109740999 | missense variant | T/C | snv | 1 | |||
rs1057516216 | 1.000 | 0.120 | 7 | 117592659 | splice donor variant | T/C | snv | 7.0E-06 | 1 | ||
rs1057516232 | 1.000 | 0.120 | 7 | 117504255 | stop gained | G/A | snv | 1 | |||
rs1057516236 | 1.000 | 0.120 | 7 | 117592596 | frameshift variant | G/- | del | 1 | |||
rs1057516387 | 1.000 | 0.120 | 7 | 117540116 | frameshift variant | -/TC | delins | 1 | |||
rs1057516415 | 1.000 | 0.120 | 7 | 117610522 | frameshift variant | T/- | delins | 1 | |||
rs1057516609 | 1.000 | 0.120 | 7 | 117627586 | stop gained | C/A | snv | 1 | |||
rs1057516619 | 1.000 | 0.120 | 7 | 117536669 | stop gained | A/T | snv | 1 | |||
rs1057516646 | 1.000 | 0.120 | 7 | 117536546 | splice acceptor variant | A/G | snv | 1 | |||
rs1057516970 | 1.000 | 0.120 | 7 | 117627548 | frameshift variant | G/- | del | 1 | |||
rs1057517032 | 1.000 | 0.120 | 7 | 117603725 | frameshift variant | A/- | delins | 1 | |||
rs1057517068 | 1.000 | 0.120 | 7 | 117594992 | frameshift variant | -/T | delins | 7.0E-06 | 1 | ||
rs1057517276 | 1.000 | 0.120 | 7 | 117592649 | frameshift variant | -/A | delins | 1 | |||
rs1057517342 | 1.000 | 0.120 | 7 | 117535406 | splice donor variant | -/TACA | delins | 1 | |||
rs1057517404 | 1.000 | 0.120 | 7 | 117642569 | frameshift variant | -/AA | delins | 1 | |||
rs1060503164 | 1.000 | 0.120 | 7 | 117603783 | splice donor variant | G/A | snv | 1 | |||
rs1177201180 | 1.000 | 0.120 | 7 | 117592160 | missense variant | A/T | snv | 1 | |||
rs1199914684 | 1.000 | 0.120 | 7 | 117536639 | stop gained | G/T | snv | 1 | |||
rs1204521684 | 1.000 | 0.120 | 7 | 117540180 | missense variant | T/A;C;G | snv | 4.0E-06 | 1 | ||
rs121908750 | 1.000 | 0.120 | 7 | 117509140 | missense variant | G/A | snv | 4.0E-06 | 1 |