Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042713 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 63 | |
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
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 | |||
rs1057516457 | 0.925 | 0.160 | 7 | 117664711 | frameshift variant | CA/- | delins | 2 | |||
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 | |||
rs1059057 | 1.000 | 0.120 | 10 | 79613765 | synonymous variant | A/G | snv | 9.9E-02 | 6.4E-02 | 1 | |
rs1060503164 | 1.000 | 0.120 | 7 | 117603783 | splice donor variant | G/A | snv | 1 | |||
rs1078761 | 1.000 | 0.120 | 20 | 33288875 | missense variant | A/C;G | snv | 4.1E-06; 0.30 | 2 | ||
rs11003125 | 0.790 | 0.480 | 10 | 52772254 | upstream gene variant | G/C | snv | 0.31 | 7 | ||
rs1124 | 0.882 | 0.160 | 8 | 22164004 | missense variant | G/A | snv | 0.30 | 0.26 | 3 | |
rs1136451 | 1.000 | 0.120 | 10 | 79612325 | synonymous variant | A/G | snv | 0.21 | 0.17 | 1 | |
rs113857788 | 0.882 | 0.160 | 7 | 117664780 | missense variant | G/C;T | snv | 1.0E-03; 6.0E-05 | 5 | ||
rs113993958 | 0.882 | 0.200 | 7 | 117530953 | missense variant | G/A;C;T | snv | 2.0E-05; 4.0E-06 | 3 |