| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121912934 | 1.000 | 0.120 | 21 | 45998399 | missense variant | G/A;T | snv | 4.0E-06 | 1 | ||
| rs121912935 | 1.000 | 0.120 | 21 | 45990792 | missense variant | G/A;T | snv | 1 | |||
| rs121912936 | 1.000 | 0.120 | 21 | 45984403 | missense variant | A/G | snv | 1 | |||
| rs1556423728 | 1.000 | 0.120 | 21 | 45982682 | frameshift variant | C/- | delins | 1 | |||
| rs1556425467 | 1.000 | 0.120 | 21 | 45989102 | missense variant | G/C;T | snv | 1 | |||
| rs1556425468 | 1.000 | 0.120 | 21 | 45989103 | missense variant | G/T | snv | 1 | |||
| rs1556425474 | 1.000 | 0.120 | 21 | 45989120 | inframe deletion | AGCCGGAGA/- | delins | 1 | |||
| rs1556425566 | 1.000 | 0.120 | 21 | 45989753 | missense variant | G/A | snv | 1 | |||
| rs1556425687 | 1.000 | 0.120 | 21 | 45990284 | splice donor variant | GGTGAGCG/- | del | 1 | |||
| rs1556425717 | 1.000 | 0.120 | 21 | 45990376 | splice acceptor variant | A/G | snv | 1 | |||
| rs1556425835 | 1.000 | 0.120 | 21 | 45990771 | splice acceptor variant | A/- | del | 1 | |||
| rs1569517717 | 1.000 | 0.120 | 21 | 45984470 | splice donor variant | G/A | snv | 1 | |||
| rs1569518481 | 1.000 | 0.120 | 21 | 45994231 | splice donor variant | T/G | snv | 1 | |||
| rs1569519030 | 1.000 | 0.120 | 21 | 46001252 | splice acceptor variant | G/T | snv | 1 | |||
| rs201093313 | 1.000 | 0.120 | 21 | 45989100 | missense variant | C/G;T | snv | 4.0E-06; 2.4E-05 | 1 | ||
| rs751040647 | 1.000 | 0.120 | 21 | 45999190 | missense variant | A/C | snv | 1.1E-04 | 1.5E-04 | 1 | |
| rs759918870 | 1.000 | 0.120 | 21 | 46002696 | splice donor variant | ATAGGTGCGCATGGGGCCACCCGGGCAGTCCCAGATCTGC/- | delins | 7.0E-06 | 1 | ||
| rs762867111 | 1.000 | 0.120 | 21 | 45987076 | splice region variant | A/G | snv | 1.2E-05 | 5.6E-05 | 1 | |
| rs764129993 | 1.000 | 0.120 | 21 | 46001375 | missense variant | G/A;C | snv | 2.8E-05; 4.0E-06 | 1 | ||
| rs797044456 | 1.000 | 0.120 | 21 | 45990828 | splice donor variant | T/C | snv | 1 | |||
| rs886042354 | 1.000 | 0.120 | 21 | 45990257 | splice acceptor variant | G/A;C | snv | 1 | |||
| rs886043321 | 1.000 | 0.120 | 21 | 45990791 | missense variant | G/C;T | snv | 1 | |||
| rs886043351 | 1.000 | 0.120 | 21 | 45987638 | missense variant | G/A;T | snv | 1 | |||
| rs117725825 | 1.000 | 0.120 | 21 | 46132287 | missense variant | C/G;T | snv | 2.5E-03 | 1 | ||
| rs121912940 | 1.000 | 0.120 | 21 | 46115881 | missense variant | G/A | snv | 1 |