GJB6, gap junction protein beta 6, 10804

N. diseases: 176; N. variants: 14
Disease: Deafness, Autosomal Dominant 3B ×
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: rs104894414
rs104894414 		1.000 0.120 13 20223467 missense variant G/A snv 2.4E-05 1.4E-05
CUI: C2675237
Disease: Deafness, Autosomal Dominant 3B
Deafness, Autosomal Dominant 3B 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 1999 1999
dbSNP: rs104894415
rs104894415 		0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06
CUI: C2675237
Disease: Deafness, Autosomal Dominant 3B
Deafness, Autosomal Dominant 3B 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 10 2000 2016
dbSNP: rs28937872
rs28937872 		0.851 0.200 13 20223218 missense variant G/A snv
CUI: C2675237
Disease: Deafness, Autosomal Dominant 3B
Deafness, Autosomal Dominant 3B 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 8 2000 2016
dbSNP: rs780320724
rs780320724 		0.925 0.120 13 20223362 missense variant G/A snv 5.6E-05
CUI: C2675237
Disease: Deafness, Autosomal Dominant 3B
Deafness, Autosomal Dominant 3B 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2007 2007