RAPSN, receptor associated protein of the synapse, 5913
N. diseases: 121; N. variants: 21
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 | 11 | 47442792 | frameshift variant | -/AACAG | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 11 | 47438813 | frameshift variant | -/AG | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 11 | 47441675 | missense variant | A/G | snv | 4.1E-05 | 5.6E-05 |
|
0.800 | 1.000 | 9 | 2002 | 2007 | ||||||||
|
1.000 | 11 | 47448924 | missense variant | A/G | snv | 8.0E-06 |
|
0.800 | 1.000 | 9 | 2002 | 2007 | |||||||||
|
11 | 47440232 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
11 | 47440232 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
11 | 47447017 | intron variant | A/G | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 47447017 | intron variant | A/G | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 11 | 47440589 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 47440589 | intron variant | A/G | snv | 0.31 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 11 | 47440589 | intron variant | A/G | snv | 0.31 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 11 | 47448832 | missense variant | C/A;G;T | snv | 4.0E-06; 3.6E-05 |
|
0.800 | 1.000 | 10 | 2002 | 2009 | ||||||||
|
0.925 | 0.080 | 11 | 47448832 | missense variant | C/A;G;T | snv | 4.0E-06; 3.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2007 | 2009 | |||||||
|
1.000 | 0.080 | 11 | 47448071 | missense variant | C/A;T | snv | 1.6E-05; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 11 | 47448071 | missense variant | C/A;T | snv | 1.6E-05; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.925 | 0.080 | 11 | 47447859 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 |
|
0.800 | 1.000 | 9 | 2002 | 2007 | |||||||
|
0.925 | 0.080 | 11 | 47447859 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.040 | 11 | 47446993 | intron variant | C/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 11 | 47446993 | intron variant | C/T | snv | 0.61 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
11 | 47447239 | intron variant | C/T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 47447239 | intron variant | C/T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 47447239 | intron variant | C/T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 11 | 47447853 | missense variant | G/A | snv | 2.0E-05 | 2.1E-05 |
|
0.800 | 1.000 | 9 | 2002 | 2007 | ||||||||
|
11 | 47448793 | missense variant | G/A | snv | 0.10 | 8.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 11 | 47447853 | missense variant | G/A | snv | 2.0E-05 | 2.1E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 |