Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80356734 | 0.851 | 0.160 | 1 | 11022464 | missense variant | A/G | snv | 4 | |||
rs766196255 | 1.000 | 0.080 | 1 | 11022532 | missense variant | A/G | snv | 2.6E-05 | 1.4E-05 | 1 | |
rs80356738 | 0.925 | 0.080 | 1 | 11022544 | missense variant | T/C;G | snv | 2 | |||
rs367543041 | 0.742 | 0.200 | 1 | 11022553 | missense variant | G/A;C | snv | 3.0E-05 | 15 | ||
rs797044594 | 0.925 | 0.080 | 1 | 11022559 | missense variant | G/C | snv | 2 | |||
rs748086058 | 1.000 | 0.080 | 13 | 111115619 | synonymous variant | G/A;C | snv | 5.7E-06 | 1 | ||
rs772912273 | 1.000 | 0.080 | 13 | 111209877 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs755836362 | 1.000 | 0.080 | 13 | 111267576 | frameshift variant | G/- | delins | 1 | |||
rs374385876 | 1.000 | 0.080 | 12 | 111525287 | missense variant | T/C | snv | 4.1E-06 | 3.5E-05 | 1 | |
rs1250700280 | 1.000 | 0.080 | 12 | 111525290 | missense variant | C/T | snv | 1 | |||
rs695872 | 0.925 | 0.120 | 12 | 111599125 | synonymous variant | G/A | snv | 0.79 | 0.61 | 2 | |
rs695871 | 1.000 | 0.080 | 12 | 111599196 | missense variant | G/C | snv | 0.77 | 0.61 | 2 | |
rs779467346 | 1.000 | 0.080 | 13 | 112785188 | synonymous variant | G/A | snv | 1.3E-05 | 7.0E-06 | 1 | |
rs1445888481 | 0.925 | 0.080 | 2 | 112835572 | synonymous variant | C/T | snv | 7.0E-06 | 2 | ||
rs1380437028 | 1.000 | 0.080 | 2 | 113132708 | missense variant | C/G | snv | 7.0E-06 | 1 | ||
rs1800435 | 0.827 | 0.200 | 9 | 113391611 | missense variant | C/G | snv | 8.3E-02 | 6.1E-02 | 7 | |
rs1485665730 | 1.000 | 0.080 | 1 | 113981288 | missense variant | C/G | snv | 4.1E-06 | 1 | ||
rs763196530 | 1.000 | 0.080 | 7 | 116699177 | synonymous variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs1347844721 | 1.000 | 0.080 | 9 | 117704565 | missense variant | G/A;C | snv | 4.0E-06 | 1 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1279258206 | 0.925 | 0.080 | 11 | 119420222 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs1403083560 | 1.000 | 0.080 | 12 | 119668337 | synonymous variant | G/A;T | snv | 4.0E-06 | 1 | ||
rs771845093 | 0.925 | 0.160 | 1 | 12005903 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 3 | |
rs1240281917 | 1.000 | 0.080 | 12 | 121133063 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
rs1388646839 | 1.000 | 0.080 | 12 | 122341610 | missense variant | T/C | snv | 1 |