KIF1A, kinesin family member 1A, 547
N. diseases: 187; N. variants: 45
Source: ALL
| Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.200 | 2 | 240788118 | missense variant | G/A | snv |
|
0.700 | 1.000 | 4 | 2011 | 2015 | |||||||||
|
0.790 | 0.160 | 2 | 240775863 | missense variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
0.882 | 0.080 | 2 | 240775889 | missense variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
0.790 | 0.120 | 2 | 240783780 | missense variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2015 | |||||||||
|
0.851 | 0.120 | 2 | 240788208 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 2 | 240788110 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 2 | 240720913 | splice donor variant | C/G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.080 | 2 | 240762718 | splice donor variant | C/G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.080 | 2 | 240723560 | splice acceptor variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.080 | 2 | 240785101 | splice acceptor variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.120 | 2 | 240757337 | frameshift variant | A/- | del | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.080 | 2 | 240769625 | splice donor variant | A/G;T | snv | 4.1E-06 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.120 | 2 | 240797715 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 2 | 240783776 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 2 | 240783788 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 2 | 240740133 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 2 | 240763087 | stop gained | G/A | snv | 4.5E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 2 | 240783087 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 2 | 240783777 | missense variant | G/A | snv |
|
0.700 | 0 |