GJB6, gap junction protein beta 6, 10804

N. diseases: 176; N. variants: 14
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: 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: rs104894415
rs104894415 		0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		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: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 8 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: rs577509855
rs577509855 		13 20223387 stop gained G/A snv 2.0E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
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: rs28937872
rs28937872 		0.851 0.200 13 20223218 missense variant G/A snv
CUI: C0018780
Disease: Hearing Loss, High-Frequency
Hearing Loss, High-Frequency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019