GRIN2B, glutamate ionotropic receptor NMDA type subunit 2B, 2904
N. diseases: 249; N. variants: 83
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 | 12 | 13571888 | missense variant | C/T | snv |
|
0.800 | 1.000 | 7 | 2010 | 2017 | ||||||||||
|
1.000 | 12 | 13571931 | missense variant | G/A | snv |
|
0.800 | 1.000 | 7 | 2010 | 2017 | ||||||||||
|
1.000 | 12 | 13615626 | missense variant | C/T | snv |
|
0.800 | 1.000 | 7 | 2010 | 2017 | ||||||||||
|
1.000 | 12 | 13611847 | missense variant | G/A | snv |
|
0.800 | 1.000 | 7 | 2010 | 2017 | ||||||||||
|
1.000 | 12 | 13616545 | missense variant | T/C | snv |
|
0.800 | 1.000 | 7 | 2010 | 2017 | ||||||||||
|
0.925 | 0.040 | 12 | 13608760 | missense variant | A/C | snv |
|
0.800 | 1.000 | 3 | 2014 | 2017 | |||||||||
|
1.000 | 12 | 13608769 | missense variant | T/A | snv |
|
0.800 | 1.000 | 3 | 2014 | 2017 | ||||||||||
|
12 | 13774962 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1.000 | 12 | 13571888 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 18 | 2007 | 2017 | |||||||||
|
0.807 | 0.160 | 12 | 13567164 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 18 | 2007 | 2017 | |||||||
|
0.882 | 0.040 | 12 | 13615149 | missense variant | C/T | snv |
|
0.700 | 1.000 | 3 | 2014 | 2017 | |||||||||
|
1.000 | 0.040 | 12 | 13457576 | intron variant | T/C | snv | 0.53 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 12 | 13463601 | intron variant | A/G | snv | 0.15 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 12 | 13464778 | intron variant | C/T | snv | 7.5E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 12 | 13528544 | intron variant | C/T | snv | 3.1E-02 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 12 | 13452980 | intron variant | T/C | snv | 7.4E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 12 | 13463323 | intron variant | C/T | snv | 0.10 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
12 | 13711041 | intron variant | T/C | snv | 4.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 13819716 | intron variant | G/A | snv | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.040 | 12 | 13463428 | intron variant | A/G | snv | 0.62 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 12 | 13465368 | intron variant | A/T | snv | 0.42 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
12 | 13474631 | intron variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.040 | 12 | 13465015 | intron variant | A/C | snv | 0.14 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 12 | 13455592 | intron variant | T/C | snv | 9.2E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 12 | 13455477 | intron variant | G/A;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 |