GJB2, gap junction protein beta 2, 2706
N. diseases: 392; N. variants: 132
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 | 0.200 | 13 | 20189359 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.050 | 1.000 | 5 | 2002 | 2011 | ||||||||
|
0.851 | 0.240 | 13 | 20189386 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2000 | 2000 | |||||||
|
0.882 | 0.200 | 13 | 20189406 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.030 | 1.000 | 3 | 2010 | 2011 | ||||||||
|
0.925 | 0.200 | 13 | 20188977 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
0.827 | 0.280 | 13 | 20189364 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.200 | 13 | 20189358 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.050 | 1.000 | 5 | 2002 | 2014 | |||||||
|
0.925 | 0.200 | 13 | 20189047 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.200 | 13 | 20189391 | frameshift variant | ACACGTTCTTGCAGCC/- | delins | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.030 | 1.000 | 3 | 2010 | 2011 | |||||||
|
0.752 | 0.280 | 13 | 20189031 | missense variant | C/G;T | snv | 6.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2010 | 2011 | |||||||
|
0.882 | 0.200 | 13 | 20189516 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |