GJB3, gap junction protein beta 3, 2707

N. diseases: 79; N. variants: 16
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: rs74315315
rs74315315 		0.925 0.080 1 34784796 missense variant G/A;C snv 3.2E-05
CUI: C4551486
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 3 1998 2000
dbSNP: rs74315316
rs74315316 		0.925 0.080 1 34784797 missense variant G/A snv
CUI: C4551486
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 3 1998 2000
dbSNP: rs74315317
rs74315317 		1.000 0.080 1 34785018 missense variant T/A;C snv 4.0E-06
CUI: C4551486
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 3 1998 2000
dbSNP: rs74315321
rs74315321 		0.882 0.080 1 34784887 missense variant G/A;C snv 1.2E-05
CUI: C4551486
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 3 1998 2000
dbSNP: rs74315318
rs74315318 		0.925 0.200 1 34785309 missense variant G/A snv 6.4E-04 1.8E-04
CUI: C2675236
Disease: Deafness, Autosomal Dominant 2B
Deafness, Autosomal Dominant 2B 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 1998 1998
dbSNP: rs2359644
rs2359644 		1 34781052 intron variant T/C snv 0.42
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2019 2019
dbSNP: rs74315320
rs74315320 		0.925 0.120 1 34785183 missense variant A/G snv
CUI: C2675236
Disease: Deafness, Autosomal Dominant 2B
Deafness, Autosomal Dominant 2B 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 1998 1998
dbSNP: rs121908851
rs121908851 		1.000 0.120 1 34785259 missense variant A/G;T snv 8.0E-06; 4.0E-06
CUI: C2673761
Disease: DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs144964568
rs144964568 		1.000 0.120 1 34785465 stop gained C/T snv 2.0E-05 1.4E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1557659237
rs1557659237 		1.000 0.120 1 34784770 stop gained G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1557659237
rs1557659237 		1.000 0.120 1 34784770 stop gained 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 0
dbSNP: rs28937583
rs28937583 		0.925 0.080 1 34784863 missense variant T/C snv
CUI: C4551486
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs74315320
rs74315320 		0.925 0.120 1 34785183 missense variant A/G snv
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs770247378
rs770247378 		1.000 0.120 1 34785183 inframe deletion ATT/- del
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs74315319
rs74315319 		1.000 0.120 1 34785300 stop gained C/T snv 8.8E-05 3.5E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.020 1.000 2 2005 2017
dbSNP: rs1064794946
rs1064794946 		0.925 0.120 1 34784872 missense variant T/A snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1064794946
rs1064794946 		0.925 0.120 1 34784872 missense variant T/A snv
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs148388884
rs148388884 		1.000 0.200 1 34784871 missense variant G/A;C;T snv 9.1E-04; 4.4E-05; 8.0E-06
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs28937583
rs28937583 		0.925 0.080 1 34784863 missense variant T/C snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs28937583
rs28937583 		0.925 0.080 1 34784863 missense variant T/C snv
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs74315315
rs74315315 		0.925 0.080 1 34784796 missense variant G/A;C snv 3.2E-05
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs74315316
rs74315316 		0.925 0.080 1 34784797 missense variant G/A snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs74315316
rs74315316 		0.925 0.080 1 34784797 missense variant G/A snv
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs74315316
rs74315316 		0.925 0.080 1 34784797 missense variant G/A snv
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2003 2003
dbSNP: rs74315317
rs74315317 		1.000 0.080 1 34785018 missense variant T/A;C snv 4.0E-06
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		Nervous System Diseases 0.010 1.000 1 2009 2009