Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1054950770 | 1.000 | 0.080 | 19 | 35851260 | splice donor variant | A/G | snv | 7.0E-06 | 1 | ||
rs1057516942 | 1.000 | 0.080 | 19 | 35851557 | frameshift variant | A/- | del | 1 | |||
rs1057517275 | 1.000 | 0.080 | 19 | 35850377 | frameshift variant | C/- | delins | 1 | |||
rs1555764281 | 1.000 | 0.080 | 19 | 35851793 | frameshift variant | C/-;CCC | delins | 1 | |||
rs386833882 | 1.000 | 0.080 | 19 | 35851592 | frameshift variant | C/- | delins | 8.1E-06 | 2.8E-05 | 1 | |
rs386833932 | 1.000 | 0.080 | 19 | 35851346 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
rs386833933 | 1.000 | 0.080 | 19 | 35851340 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 | 1 | |
rs386833943 | 1.000 | 0.080 | 19 | 35851019 | stop gained | G/C | snv | 1 | |||
rs386833947 | 1.000 | 0.080 | 19 | 35850970 | inframe deletion | GTG/- | delins | 1.4E-05 | 1 | ||
rs386833949 | 1.000 | 0.080 | 19 | 35850969 | missense variant | A/T | snv | 8.0E-06 | 1 | ||
rs386833951 | 1.000 | 0.080 | 19 | 35850440 | stop gained | G/A | snv | 1.2E-05 | 1 | ||
rs386833953 | 1.000 | 0.080 | 19 | 35850398 | stop gained | G/A | snv | 4.0E-06 | 2.1E-05 | 1 | |
rs386833955 | 1.000 | 0.080 | 19 | 35849655 | splice acceptor variant | T/C;G | snv | 8.0E-06 | 1 | ||
rs778217926 | 1.000 | 0.080 | 19 | 35849643 | frameshift variant | G/- | delins | 4.2E-05 | 1 | ||
rs1009762900 | 1.000 | 0.080 | 19 | 35831763 | splice acceptor variant | C/A;T | snv | 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 | |||
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 | ||
rs1057517413 | 1.000 | 0.080 | 19 | 35848795 | splice acceptor variant | C/G | snv | 1 | |||
rs113825926 | 1.000 | 0.080 | 19 | 35849107 | missense variant | G/A | snv | 7.7E-03 | 8.5E-03 | 1 | |
rs114203578 | 1.000 | 0.080 | 19 | 35842480 | missense variant | C/G;T | snv | 6.8E-05 | 1 | ||
rs114849139 | 1.000 | 0.080 | 19 | 35839554 | missense variant | C/G;T | snv | 1.1E-03; 8.0E-05 | 1 | ||
rs1244884053 | 1.000 | 0.080 | 19 | 35842244 | frameshift variant | TTAG/- | delins | 7.0E-06 | 1 |