HESX1, HESX homeobox 1, 8820
N. diseases: 143; N. variants: 22
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 | 0.240 | 3 | 57199901 | missense variant | C/G | snv | 2.8E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.710 | 0.750 | 4 | 2001 | 2016 | ||||||
|
1.000 | 0.080 | 3 | 57198277 | missense variant | G/A | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.820 | 1.000 | 4 | 1998 | 2016 | |||||||
|
0.925 | 0.080 | 3 | 57198953 | splice acceptor variant | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 3 | 1998 | 2009 | ||||||||
|
0.882 | 0.160 | 3 | 57198405 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 2001 | 2007 | ||||||
|
1.000 | 0.080 | 3 | 57198246 | missense variant | G/A | snv | 3.6E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 1998 | 2001 | ||||||
|
1.000 | 0.080 | 3 | 57198214 | missense variant | T/C | snv | 1.0E-04 | 7.7E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 2001 | 2007 | ||||||
|
0.925 | 0.080 | 3 | 57198476 | missense variant | T/C | snv | 1.8E-02 | 7.4E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.925 | 0.120 | 3 | 57199842 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 3 | 57198797 | missense variant | A/C | snv | 1.9E-04 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.120 | 3 | 57198784 | missense variant | C/T | snv | 7.6E-05 | 1.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.160 | 3 | 57198802 | stop gained | A/T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 3 | 57198870 | frameshift variant | T/- | del | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 |