HEXA, hexosaminidase subunit alpha, 3073
N. diseases: 79; N. variants: 124
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.160 | 15 | 72346579 | frameshift variant | -/GATA | delins | 4.0E-06; 8.0E-04 | 4.5E-04 |
|
Mental Disorders | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||||
|
0.925 | 0.160 | 15 | 72347711 | missense variant | T/C;G | snv | 4.0E-06 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.160 | 15 | 72345540 | missense variant | C/T | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.160 | 15 | 72345518 | stop gained | C/T | snv | 4.0E-06 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.160 | 15 | 72345477 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 1992 | 1992 | ||||||
|
0.925 | 0.160 | 15 | 72353130 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.925 | 0.160 | 15 | 72346235 | stop gained | C/A;T | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.160 | 15 | 72356555 | stop gained | G/A | snv | 4.0E-06 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.925 | 0.160 | 15 | 72344139 | stop gained | G/A | snv | 7.0E-06 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.160 | 15 | 72346598 | stop gained | C/T | snv | 4.0E-06 |
|
Mental Disorders | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 15 | 72346307 | frameshift variant | G/- | del |
|
Mental Disorders | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 15 | 72346296 | missense variant | C/G;T | snv |
|
Mental Disorders | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 15 | 72346679 | missense variant | C/G;T | snv | 1.0E-04 |
|
Mental Disorders | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 15 | 72356531 | missense variant | C/G;T | snv | 4.0E-06 |
|
Mental Disorders | 0.700 | 0 | ||||||||||
|
0.882 | 0.240 | 15 | 72349160 | frameshift variant | GAACTCAT/- | delins |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2014 | 2014 |