GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Keratoderma, Palmoplantar ×
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.
dbSNP: rs104894402
rs104894402 		0.882 0.200 13 20189359 missense variant G/A;C snv
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.050 1.000 5 2002 2011
dbSNP: rs28931593
rs28931593 		0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.050 1.000 5 2002 2014
dbSNP: rs104894404
rs104894404 		0.882 0.200 13 20189406 missense variant C/G;T snv
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.030 1.000 3 2010 2011
dbSNP: rs750188782
rs750188782 		0.882 0.200 13 20189391 frameshift variant ACACGTTCTTGCAGCC/- delins 1.2E-05
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.030 1.000 3 2010 2011
dbSNP: rs104894403
rs104894403 		0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.020 1.000 2 2000 2000
dbSNP: rs104894406
rs104894406 		0.925 0.200 13 20188977 missense variant C/A snv
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.020 1.000 2 2010 2011
dbSNP: rs80338950
rs80338950 		0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.020 1.000 2 2010 2011
dbSNP: rs121912968
rs121912968 		0.827 0.280 13 20189364 missense variant T/C snv
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs28931595
rs28931595 		0.925 0.200 13 20189047 missense variant C/A;G;T snv 4.0E-06
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs879253741
rs879253741 		0.882 0.200 13 20189516 missense variant C/A snv
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017