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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 11 | 47449174 | upstream gene variant | T/C | snv | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 5 | 2003 | 2012 | |||||||
|
0.882 | 0.120 | 11 | 47449174 | upstream gene variant | T/C | snv | 2.1E-05 |
|
0.700 | 1.000 | 5 | 2003 | 2012 | ||||||||
|
0.882 | 0.120 | 11 | 47449174 | upstream gene variant | T/C | snv | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.827 | 0.120 | 11 | 47448079 | missense variant | G/T | snv | 1.6E-03 | 1.5E-03 |
|
0.800 | 1.000 | 19 | 2002 | 2014 | |||||||
|
0.827 | 0.120 | 11 | 47448079 | missense variant | G/T | snv | 1.6E-03 | 1.5E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 13 | 2002 | 2011 | ||||||
|
0.827 | 0.120 | 11 | 47448079 | missense variant | G/T | snv | 1.6E-03 | 1.5E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 9 | 2002 | 2014 | ||||||
|
0.827 | 0.120 | 11 | 47448079 | missense variant | G/T | snv | 1.6E-03 | 1.5E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.750 | 1.000 | 9 | 2003 | 2017 | ||||||
|
0.827 | 0.120 | 11 | 47448079 | missense variant | G/T | snv | 1.6E-03 | 1.5E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.827 | 0.120 | 11 | 47448079 | missense variant | G/T | snv | 1.6E-03 | 1.5E-03 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 11 | 47449163 | upstream gene variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
1.000 | 11 | 47441716 | stop gained | G/A;T | snv | 1.6E-05; 4.1E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 11 | 47448165 | intron variant | G/A;T | snv | 0.11; 4.1E-06 |
|
0.700 | 0 | ||||||||||||
|
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 | ||||||||||
|
0.925 | 0.080 | 11 | 47447973 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 11 | 47447973 | stop gained | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 11 | 47441670 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 11 | 47441670 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
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 |