Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs150793926 | 1.000 | 0.040 | 2 | 151924550 | intron variant | TA/-;TATA;TATATA | delins | 1 | |||
rs143268013 | 1.000 | 0.040 | 9 | 100578527 | missense variant | C/G | snv | 1.2E-04 | 3.4E-04 | 1 | |
rs751703046 | 1.000 | 0.040 | 9 | 100586276 | missense variant | G/C | snv | 9.9E-05 | 4.9E-05 | 1 | |
rs536907995 | 0.882 | 0.120 | 22 | 28734664 | stop gained | G/A | snv | 1.4E-04 | 2.8E-05 | 5 | |
rs141638421 | 0.882 | 0.080 | 11 | 111908822 | missense variant | C/T | snv | 7.2E-05 | 4.9E-05 | 4 | |
rs137852764 | 1.000 | 0.040 | 11 | 19188211 | missense variant | T/C | snv | 2.0E-05 | 7.0E-06 | 1 | |
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs535039125 | 0.851 | 0.040 | 19 | 41004380 | missense variant | C/T | snv | 1.1E-04 | 1.3E-04 | 5 | |
rs121913002 | 0.851 | 0.160 | 2 | 219425727 | missense variant | C/A;G;T | snv | 6.5E-05; 5.6E-04 | 7 | ||
rs397516695 | 0.882 | 0.040 | 2 | 219418869 | missense variant | T/A;C | snv | 5.5E-05 | 4 | ||
rs61726467 | 0.882 | 0.160 | 2 | 219421553 | stop gained | G/A;T | snv | 3 | |||
rs1368507241 | 1.000 | 0.040 | 2 | 219420613 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
rs767743962 | 1.000 | 0.040 | 2 | 219420290 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 1 | ||
rs1462311598 | 1.000 | 0.040 | X | 32390180 | missense variant | T/C | snv | 5.5E-06 | 1 | ||
rs777064945 | 1.000 | 0.040 | 6 | 38722928 | missense variant | A/C;G | snv | 4.1E-06; 8.3E-06 | 1 | ||
rs149399492 | 1.000 | 0.040 | 6 | 12292395 | missense variant | C/A;G;T | snv | 5.6E-05; 2.0E-05; 3.1E-04 | 1 | ||
rs150035515 | 1.000 | 0.040 | 6 | 12292366 | synonymous variant | G/A;T | snv | 7.0E-04; 5.2E-05 | 1 | ||
rs867770797 | 0.851 | 0.200 | 4 | 147519875 | missense variant | G/A | snv | 8 | |||
rs2227983 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 31 | ||
rs777846521 | 1.000 | 0.040 | 2 | 105386375 | missense variant | C/G;T | snv | 8.0E-06; 3.2E-05 | 1 | ||
rs753641918 | 1.000 | 0.040 | 18 | 36755156 | missense variant | T/A | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs73920070 | 1.000 | 0.040 | 19 | 5851772 | intron variant | G/A | snv | 1.8E-02 | 1 | ||
rs1553974835 | 1.000 | 0.040 | 4 | 173529091 | stop gained | C/A | snv | 2 | |||
rs1800730 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 32 | |
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 |