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: rs1364245978
rs1364245978 		1.000 0.080 13 20222876 missense variant C/A 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: rs780320724
rs780320724 		0.925 0.120 13 20223362 missense variant G/A snv 5.6E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs104894416
rs104894416 		0.882 0.160 13 20223371 missense variant A/T snv 4.0E-06
CUI: C3665333
Disease: Keratitis-Ichthyosis-Deafness Syndrome
Keratitis-Ichthyosis-Deafness Syndrome 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs28937872
rs28937872 		0.851 0.200 13 20223218 missense variant G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs775911480
rs775911480 		1.000 0.080 13 20223257 missense variant C/T snv 2.4E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs776848994
rs776848994 		1.000 0.120 13 20223480 start lost T/C snv 1.6E-05 4.2E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
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: 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