Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131692245 | 0.925 | 0.160 | 19 | 35844109 | missense variant | C/T | snv | 7 | |||
rs386833945 | 0.882 | 0.080 | 19 | 35850987 | missense variant | G/A | snv | 4 | |||
rs1009762900 | 1.000 | 0.080 | 19 | 35831763 | splice acceptor variant | C/A;T | snv | 1 | |||
rs1054950770 | 1.000 | 0.080 | 19 | 35851260 | splice donor variant | A/G | snv | 7.0E-06 | 1 | ||
rs1057516637 | 1.000 | 0.080 | 19 | 35835755 | frameshift variant | -/G | delins | 1 | |||
rs1057516776 | 1.000 | 0.080 | 19 | 35848147 | stop gained | C/T | snv | 1 | |||
rs1057516918 | 1.000 | 0.080 | 19 | 35848112 | frameshift variant | C/- | delins | 1 | |||
rs1057516942 | 1.000 | 0.080 | 19 | 35851557 | frameshift variant | A/- | del | 1 | |||
rs1057517021 | 1.000 | 0.080 | 19 | 35845681 | frameshift variant | T/- | delins | 7.0E-06 | 1 | ||
rs1057517022 | 1.000 | 0.080 | 19 | 35844419 | frameshift variant | G/- | delins | 7.0E-06 | 1 | ||
rs1057517275 | 1.000 | 0.080 | 19 | 35850377 | frameshift variant | C/- | delins | 1 | |||
rs1057517413 | 1.000 | 0.080 | 19 | 35848795 | splice acceptor variant | C/G | snv | 1 | |||
rs1244884053 | 1.000 | 0.080 | 19 | 35842244 | frameshift variant | TTAG/- | delins | 7.0E-06 | 1 | ||
rs139954720 | 1.000 | 0.080 | 19 | 35852305 | intron variant | TCTCTCTCTCTC/-;TCTC;TCTCTC;TCTCTCTC;TCTCTCTCTC;TCTCTCTCTCTCTC;TCTCTCTCTCTCTCTC;TCTCTCTCTCTCTCTCTC | delins | 1 | |||
rs1468337078 | 1.000 | 0.080 | 19 | 35845727 | missense variant | A/T | snv | 7.0E-06 | 1 | ||
rs1555758163 | 1.000 | 0.080 | 19 | 35826627 | frameshift variant | A/- | del | 1 | |||
rs1555758856 | 1.000 | 0.080 | 19 | 35830843 | splice donor variant | C/T | snv | 1 | |||
rs1555761997 | 1.000 | 0.080 | 19 | 35842246 | frameshift variant | A/- | del | 1 | |||
rs1555762381 | 1.000 | 0.080 | 19 | 35844460 | splice acceptor variant | C/T | snv | 1 | |||
rs1555762591 | 1.000 | 0.080 | 19 | 35845668 | splice donor variant | C/T | snv | 1 | |||
rs1555763090 | 1.000 | 0.080 | 19 | 35848167 | splice acceptor variant | T/C | snv | 1 | |||
rs1555763372 | 1.000 | 0.080 | 19 | 35848787 | frameshift variant | A/- | del | 1 | |||
rs1555763460 | 1.000 | 0.080 | 19 | 35849137 | frameshift variant | G/- | delins | 1 | |||
rs1555763503 | 1.000 | 0.080 | 19 | 35849266 | frameshift variant | -/C | delins | 1 | |||
rs1555763603 | 1.000 | 0.080 | 19 | 35849641 | protein altering variant | CCGGGGTG/AA | delins | 1 |