Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs9939609 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 98 | ||
rs17817449 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 21 | |||
rs1050828 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 15 | |
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 | |||
rs1064794268 | 0.925 | 0.080 | 7 | 44153396 | missense variant | T/G | snv | 2 | |||
rs193922262 | 0.925 | 0.080 | 7 | 44145636 | stop gained | C/A;G | snv | 4.3E-06 | 2 | ||
rs193922287 | 0.925 | 0.080 | 7 | 44153334 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs556581174 | 0.925 | 0.080 | 7 | 44145637 | stop gained | G/A;C;T | snv | 2 | |||
rs755498926 | 1.000 | 0.040 | 7 | 44145228 | missense variant | T/C | snv | 4.1E-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 | |||
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 | ||
rs11549465 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 55 | |
rs137853240 | 0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 | 8 |