Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507178 | 1.000 | 0.200 | 5 | 132595760 | frameshift variant | A/-;AA | delins | 2 | |||
rs760146707 | 1.000 | 0.200 | 5 | 132579997 | frameshift variant | T/- | del | 4.1E-04 | 2 | ||
rs1060501941 | 1.000 | 0.200 | 5 | 132609388 | frameshift variant | CACA/- | delins | 2 | |||
rs1247689593 | 1.000 | 0.200 | 5 | 132588728 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs121912628 | 1.000 | 0.200 | 5 | 132618182 | stop gained | C/G;T | snv | 1.6E-05 | 2.8E-05 | 2 | |
rs1554098250 | 1.000 | 0.200 | 5 | 132588806 | frameshift variant | CAGA/- | delins | 2 | |||
rs149201802 | 1.000 | 0.200 | 5 | 132594950 | stop gained | C/G;T | snv | 8.0E-05; 5.6E-05 | 2 | ||
rs876659005 | 1.000 | 0.200 | 5 | 132579868 | frameshift variant | -/A | delins | 2 | |||
rs587781742 | 1.000 | 0.120 | 5 | 132594868 | splice acceptor variant | G/A;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
rs587782895 | 1.000 | 0.200 | 5 | 132604020 | frameshift variant | AA/- | del | 5.6E-05 | 2 | ||
rs1561635887 | 1.000 | 0.200 | 5 | 132579402 | frameshift variant | -/TA | delins | 2 | |||
rs772468452 | 1.000 | 0.200 | 5 | 132595719 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 | 2 | |
rs587782090 | 1.000 | 0.200 | 5 | 132587942 | stop gained | G/T | snv | 2 | |||
rs878854799 | 1.000 | 0.200 | 5 | 132638094 | frameshift variant | AGAAATA/- | del | 2 | |||
rs1554096644 | 5 | 132557395 | frameshift variant | T/- | delins | 1 | |||||
rs748086984 | 5 | 132557455 | splice donor variant | T/A | snv | 8.0E-06 | 7.0E-06 | 1 | |||
rs377260382 | 5 | 132557327 | start lost | G/A | snv | 4.8E-05 | 4.2E-05 | 1 | |||
rs1060501923 | 5 | 132618271 | frameshift variant | TATT/- | delins | 7.0E-06 | 1 | ||||
rs776276760 | 5 | 132588882 | splice donor variant | C/G | snv | 2.0E-05 | 1 | ||||
rs1554097755 | 5 | 132579315 | splice acceptor variant | A/G | snv | 1 | |||||
rs397507177 | 5 | 132608717 | stop gained | C/T | snv | 1.4E-05 | 7.0E-06 | 1 | |||
rs876659837 | 5 | 132559308 | frameshift variant | A/- | del | 1 | |||||
rs587782543 | 5 | 132591957 | frameshift variant | -/A | delins | 1 | |||||
rs876659255 | 5 | 132579492 | frameshift variant | TC/A | delins | 1 | |||||
rs769047012 | 5 | 132589656 | frameshift variant | TG/- | del | 8.2E-06 | 1 |