Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs80338800 | 0.827 | 0.120 | 15 | 42387803 | frameshift variant | A/- | delins | 21 | |||
| rs778768583 | 0.851 | 0.120 | 15 | 42410958 | missense variant | G/C | snv | 8.0E-06 | 10 | ||
| rs886042108 | 0.851 | 0.120 | 15 | 42409930 | splice acceptor variant | G/C;T | snv | 10 | |||
| rs1555421871 | 0.882 | 0.120 | 15 | 42399617 | frameshift variant | G/- | delins | 6 | |||
| rs777323132 | 0.882 | 0.240 | 15 | 42399616 | missense variant | C/T | snv | 4.0E-06; 2.4E-05 | 7.0E-06 | 4 | |
| rs758058910 | 1.000 | 0.120 | 15 | 42360096 | missense variant | C/A;T | snv | 4.0E-06 | 1.4E-05 | 3 | |
| rs768090444 | 1.000 | 0.120 | 15 | 42410645 | stop gained | C/G;T | snv | 4.0E-06 | 2.1E-05 | 3 | |
| rs141656719 | 0.925 | 0.120 | 15 | 42401754 | missense variant | C/T | snv | 4.0E-06; 8.4E-05 | 1.5E-04 | 2 | |
| rs142004418 | 0.925 | 0.120 | 15 | 42402878 | missense variant | C/G;T | snv | 4.0E-06; 3.6E-05 | 2 | ||
| rs1555423217 | 0.925 | 0.120 | 15 | 42410982 | frameshift variant | AG/TCATCT | delins | 2 | |||
| rs199806879 | 0.925 | 0.120 | 15 | 42408227 | missense variant | C/T | snv | 4.4E-05 | 3.5E-05 | 2 | |
| rs369552114 | 0.925 | 0.120 | 15 | 42409786 | splice acceptor variant | G/A | snv | 1.2E-05 | 2.8E-05 | 2 | |
| rs376107921 | 0.925 | 0.120 | 15 | 42399617 | missense variant | G/A;C | snv | 6.5E-05; 4.0E-05 | 2 | ||
| rs774048743 | 0.925 | 0.120 | 15 | 42359938 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 2 | |
| rs863224965 | 0.925 | 0.120 | 15 | 42388935 | inframe deletion | TCCTACGAAGCTCTGAAAGGT/- | delins | 2 | |||
| rs878854364 | 0.925 | 0.120 | 15 | 42386226 | stop gained | C/T | snv | 8.0E-06 | 2 | ||
| rs1057524468 | 1.000 | 0.120 | 15 | 42394343 | splice donor variant | T/A;C | snv | 1 | |||
| rs1064793620 | 1.000 | 0.120 | 15 | 42389037 | frameshift variant | AT/- | del | 1 | |||
| rs1085307995 | 1.000 | 0.120 | 15 | 42392678 | missense variant | G/A;C | snv | 1 | |||
| rs121434544 | 1.000 | 0.120 | 15 | 42402972 | missense variant | G/A;C;T | snv | 8.0E-06; 4.0E-06 | 1 | ||
| rs121434546 | 1.000 | 0.120 | 15 | 42360062 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 | 1 | |
| rs121434547 | 1.000 | 0.120 | 15 | 42392649 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 1 | |
| rs121434548 | 0.925 | 0.120 | 15 | 42401755 | missense variant | G/A;C | snv | 6.8E-05; 4.0E-06 | 1 | ||
| rs1274808359 | 1.000 | 0.120 | 15 | 42401667 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |
| rs1275289254 | 1.000 | 0.120 | 15 | 42401811 | splice donor variant | G/A;T | snv | 4.1E-06 | 1 |