GJB6, gap junction protein beta 6, 10804

N. diseases: 176; N. variants: 14
Disease: Hidrotic Ectodermal Dysplasia ×
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: rs104894415
rs104894415 		0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.830 1.000 15 2000 2016
dbSNP: rs104894416
rs104894416 		0.882 0.160 13 20223371 missense variant A/T snv 4.0E-06
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.830 1.000 4 2000 2014
dbSNP: rs28937872
rs28937872 		0.851 0.200 13 20223218 missense variant G/A snv
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.740 1.000 9 2000 2019
dbSNP: rs770612890
rs770612890 		1.000 0.080 13 20223418 frameshift variant C/- delins 3.1E-04
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 2006 2014