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: 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: 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: 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: 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: 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
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
dbSNP: rs104894415
rs104894415 		0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06
CUI: C1844678
Disease: Progressive hearing loss stapes fixation
Progressive hearing loss stapes fixation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs104894415
rs104894415 		0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 1b 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1566538321
rs1566538321 		1.000 0.120 13 20222994 frameshift variant G/- delins
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs772862268
rs772862268 		1.000 0.120 13 20223159 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs775911480
rs775911480 		1.000 0.080 13 20223257 missense variant C/T snv 2.4E-05
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.030 1.000 3 2010 2014
dbSNP: rs104894415
rs104894415 		0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06
CUI: C3539920
Disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.010 1.000 1 2003 2003
dbSNP: rs104894415
rs104894415 		0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06
CUI: C3887494
Disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2003 2003
dbSNP: rs104894415
rs104894415 		0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06
CUI: C3888065
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		0.010 1.000 1 2003 2003
dbSNP: rs104894415
rs104894415 		0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06
CUI: C3541517
Disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		0.010 1.000 1 2003 2003
dbSNP: rs104894415
rs104894415 		0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs104894415
rs104894415 		0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06
CUI: C3665333
Disease: Keratitis-Ichthyosis-Deafness Syndrome
Keratitis-Ichthyosis-Deafness Syndrome 		Eye Diseases 0.010 1.000 1 2004 2004
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: rs104894416
rs104894416 		0.882 0.160 13 20223371 missense variant A/T snv 4.0E-06
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: 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: rs1382085021
rs1382085021 		1.000 0.240 13 20223092 missense variant C/A snv 4.0E-06
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2005 2005