Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121434280 | 1.000 | 0.080 | 1 | 75732724 | missense variant | T/C | snv | 5.0E-04 | 7.1E-04 | 1 | |
rs121434281 | 1.000 | 0.080 | 1 | 75749444 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 1 | |
rs121434282 | 1.000 | 0.080 | 1 | 75749552 | missense variant | G/C | snv | 4.0E-06 | 1 | ||
rs121434283 | 1.000 | 0.080 | 1 | 75733603 | missense variant | C/T | snv | 1.2E-05 | 1 | ||
rs1215335509 | 1.000 | 0.080 | 1 | 75750514 | stop gained | G/A;T | snv | 1 | |||
rs1225471006 | 1.000 | 0.080 | 1 | 75761173 | stop gained | -/TAGAATGAGTTAC | delins | 3.2E-05 | 2.8E-05 | 1 | |
rs1227800781 | 1.000 | 0.080 | 1 | 75761231 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
rs1319192670 | 1.000 | 0.080 | 1 | 75732688 | frameshift variant | T/- | delins | 7.0E-06 | 1 | ||
rs1325949559 | 1.000 | 0.080 | 1 | 75728417 | frameshift variant | C/- | del | 1 | |||
rs1348176225 | 1.000 | 0.080 | 1 | 75749427 | missense variant | C/A;G | snv | 1 | |||
rs1430502318 | 1.000 | 0.080 | 2 | 169289083 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs1462472677 | 1.000 | 0.080 | 1 | 75762704 | missense variant | A/G;T | snv | 4.0E-06 | 1 | ||
rs148207467 | 1.000 | 0.080 | 1 | 75761221 | stop gained | C/A;T | snv | 4.0E-06 | 1 | ||
rs148260275 | 1.000 | 0.080 | 1 | 75740112 | splice donor variant | T/C | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs149678400 | 1.000 | 0.080 | 1 | 75745889 | missense variant | C/A;T | snv | 2.9E-04; 4.0E-06 | 1 | ||
rs1553121887 | 1.000 | 0.080 | 1 | 75724790 | start lost | G/C | snv | 1 | |||
rs1553122996 | 1.000 | 0.080 | 1 | 75732924 | splice donor variant | T/G | snv | 1 | |||
rs1553123857 | 1.000 | 0.080 | 1 | 75739978 | splice acceptor variant | A/C | snv | 1 | |||
rs1553124805 | 1.000 | 0.080 | 1 | 75745916 | splice donor variant | T/G | snv | 1 | |||
rs1553125211 | 1.000 | 0.080 | 1 | 75749417 | splice acceptor variant | A/C | snv | 1 | |||
rs1553125264 | 1.000 | 0.080 | 1 | 75749536 | frameshift variant | GCT/CC | delins | 1 | |||
rs1553127172 | 1.000 | 0.080 | 1 | 75761165 | frameshift variant | TTGAACTAGCTAGAATGAGTTA/- | del | 1 | |||
rs1553127216 | 1.000 | 0.080 | 1 | 75761366 | missense variant | A/C | snv | 1 | |||
rs1553127378 | 1.000 | 0.080 | 1 | 75762691 | splice acceptor variant | G/C | snv | 1 | |||
rs1557446524 | 1.000 | 0.080 | 1 | 75734857 | stop gained | G/T | snv | 1 |