HYKK, hydroxylysine kinase, 123688
N. diseases: 19; N. variants: 30
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 15 | 78521704 | intron variant | G/A | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 15 | 78509052 | intron variant | A/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
15 | 78519756 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
15 | 78532582 | intron variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
15 | 78536749 | intron variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
15 | 78528674 | 3 prime UTR variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
15 | 78519987 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.827 | 0.080 | 15 | 78534606 | 3 prime UTR variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 15 | 78515530 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
15 | 78520813 | intron variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
15 | 78525105 | intron variant | A/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
15 | 78522956 | intron variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
15 | 78522339 | intron variant | A/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
15 | 78510715 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
15 | 78530318 | intron variant | A/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
15 | 78522047 | intron variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
15 | 78522225 | intron variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.040 | 15 | 78535744 | 3 prime UTR variant | G/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 15 | 78523715 | intron variant | G/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 15 | 78525587 | intron variant | C/T | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.080 | 15 | 78533838 | 3 prime UTR variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
15 | 78510244 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
1.000 | 0.040 | 15 | 78510527 | intron variant | C/T | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |