ATP1A3, ATPase Na+/K+ transporting subunit alpha 3, 478
N. diseases: 174; N. variants: 61
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 19 | 41966898 | missense variant | G/C;T | snv | 0.65; 6.5E-06 | 0.69 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1.000 | 19 | 41985372 | missense variant | C/T | snv | 1.4E-05 |
|
0.700 | 1.000 | 5 | 2012 | 2016 | |||||||||
|
0.882 | 0.120 | 19 | 41988511 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.120 | 19 | 41988511 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 7.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.120 | 19 | 41988511 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 7.0E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.776 | 0.280 | 19 | 41970540 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 27 | 1988 | 2017 | ||||||||
|
1.000 | 19 | 41968833 | missense variant | A/G | snv |
|
0.700 | 1.000 | 27 | 1988 | 2017 | ||||||||||
|
1.000 | 19 | 41970483 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 27 | 1988 | 2017 | |||||||||
|
1.000 | 19 | 41970483 | missense variant | G/T | snv |
|
0.700 | 1.000 | 27 | 1988 | 2017 | ||||||||||
|
1.000 | 19 | 41970483 | missense variant | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 27 | 1988 | 2017 | |||||||||
|
19 | 41981976 | missense variant | C/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 27 | 1988 | 2017 | ||||||||||
|
0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 27 | 1988 | 2017 | ||||||||
|
19 | 41984940 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 27 | 1988 | 2017 | ||||||||||
|
0.752 | 0.320 | 19 | 41970405 | missense variant | C/A;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 27 | 1988 | 2017 | ||||||||
|
0.752 | 0.320 | 19 | 41970405 | missense variant | C/A;G;T | snv |
|
Nervous System Diseases | 0.810 | 1.000 | 14 | 2004 | 2016 | ||||||||
|
0.851 | 0.240 | 19 | 41970275 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.870 | 1.000 | 8 | 2014 | 2019 | ||||||||
|
0.925 | 0.040 | 19 | 41978041 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 8 | 2004 | 2014 | ||||||||
|
0.752 | 0.280 | 19 | 41970284 | missense variant | C/T | snv |
|
Endocrine System Diseases | 0.070 | 1.000 | 7 | 2013 | 2018 | ||||||||
|
0.752 | 0.280 | 19 | 41970284 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases | 0.070 | 1.000 | 7 | 2013 | 2018 | ||||||||
|
0.776 | 0.280 | 19 | 41970540 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 6 | 2015 | 2018 | ||||||||
|
0.752 | 0.280 | 19 | 41970284 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.710 | 1.000 | 6 | 2012 | 2018 | ||||||||
|
0.790 | 0.280 | 19 | 41967744 | missense variant | C/G;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 6 | 2012 | 2015 | ||||||||
|
0.752 | 0.320 | 19 | 41970405 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 6 | 2012 | 2016 | |||||||||
|
0.776 | 0.280 | 19 | 41970540 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.710 | 1.000 | 5 | 2015 | 2018 | ||||||||
|
0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 5 | 2009 | 2014 |