Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs518147 | 0.807 | 0.200 | X | 114584109 | 5 prime UTR variant | C/A;G | snv | 7 | |||
rs1375557127 | 0.925 | 0.080 | 20 | 44424123 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs1392795567 | 0.925 | 0.080 | 20 | 44414663 | splice donor variant | G/A | snv | 2 | |||
rs1018185646 | 1.000 | 0.040 | 20 | 44428455 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs137853240 | 0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 | 8 | ||
rs137853238 | 0.807 | 0.200 | 12 | 120994265 | missense variant | G/A | snv | 6 | |||
rs1057524908 | 0.925 | 0.080 | 12 | 120993686 | frameshift variant | -/C | delins | 2 | |||
rs1565886545 | 0.925 | 0.080 | 12 | 120996261 | splice acceptor variant | G/A;C | snv | 2 | |||
rs776793516 | 0.925 | 0.080 | 12 | 120997492 | frameshift variant | CA/- | delins | 4.0E-06 | 2 | ||
rs11549465 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 55 | |
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 81 | |
rs780094 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 62 | ||
rs1447680989 | 1.000 | 0.040 | 2 | 27501147 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs104894006 | 0.925 | 0.040 | 7 | 44149992 | stop gained | G/A;T | snv | 1.2E-05 | 2 | ||
rs1057524903 | 0.925 | 0.080 | 7 | 44146466 | missense variant | T/C | snv | 2 | |||
rs1085307455 | 0.925 | 0.080 | 7 | 44149977 | missense variant | G/A;T | snv | 8.0E-06 | 2 | ||
rs397514580 | 0.925 | 0.080 | 7 | 44146467 | missense variant | C/T | snv | 2 | |||
rs764232985 | 0.851 | 0.080 | 7 | 44153381 | missense variant | C/G;T | snv | 4.0E-06 | 4 | ||
rs1057524902 | 0.882 | 0.080 | 7 | 44145495 | splice donor variant | A/T | snv | 3 | |||
rs1064793998 | 0.882 | 0.080 | 7 | 44153325 | missense variant | C/T | snv | 3 | |||
rs193922289 | 0.882 | 0.080 | 7 | 44152420 | missense variant | C/T | snv | 4.0E-06 | 3 | ||
rs193929375 | 0.882 | 0.120 | 7 | 44145560 | missense variant | C/A | snv | 3 | |||
rs1057524900 | 0.925 | 0.080 | 7 | 44145173 | missense variant | G/A;T | snv | 4.2E-06 | 2 | ||
rs1057524901 | 0.925 | 0.080 | 7 | 44145190 | frameshift variant | G/- | del | 2 | |||
rs1057524906 | 0.925 | 0.080 | 7 | 44153387 | missense variant | A/G | snv | 2 |