GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
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: rs111033361
rs111033361 		13 20189355 missense variant A/G snv 2.0E-05 7.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1476034902
rs1476034902 		13 20189542 missense variant T/C snv 1.4E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs750795475
rs750795475 		13 20189144 synonymous variant G/A snv 4.0E-06 7.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs755058488
rs755058488 		13 20189186 synonymous variant C/T snv 4.0E-06 7.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs76838169
rs76838169 		13 20188974 missense variant A/G snv 4.4E-03 1.3E-03
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections 		Infections 0.010 1.000 1 2013 2013
dbSNP: rs150529554
rs150529554 		13 20189227 stop gained C/A;T snv 4.0E-06; 1.0E-04
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs375759781
rs375759781 		13 20189108 stop gained G/A;C snv 1.2E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs3751385
rs3751385 		1.000 0.040 13 20188817 3 prime UTR variant A/G snv 0.74
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.710 1.000 2 2010 2012
dbSNP: rs1273330603
rs1273330603 		1.000 0.080 13 20189094 missense variant A/G snv 2.8E-05
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1273330603
rs1273330603 		1.000 0.080 13 20189094 missense variant A/G snv 2.8E-05
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1273330603
rs1273330603 		1.000 0.080 13 20189094 missense variant A/G snv 2.8E-05
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.700 0
dbSNP: rs104894409
rs104894409 		0.827 0.120 13 20189332 missense variant C/A;G;T snv 1.6E-05; 3.6E-05; 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 0.800 1.000 35 1998 2016
dbSNP: rs111033190
rs111033190 		0.925 0.120 13 20189487 missense variant C/A;T snv 3.2E-05; 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 0.800 1.000 23 1998 2015
dbSNP: rs104894401
rs104894401 		0.851 0.120 13 20189154 missense variant C/T snv
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 18 1998 2015
dbSNP: rs143343083
rs143343083 		1.000 0.120 13 20189284 missense variant G/A snv 1.2E-05 2.8E-05
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 17 1999 2016
dbSNP: rs1801002
rs1801002 		0.925 0.120 13 20189547 missense variant C/A;T snv 9.2E-05; 7.2E-05
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 16 2000 2015
dbSNP: rs111033295
rs111033295 		0.925 0.120 13 20189217 missense variant T/A;G snv 6.0E-05
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 15 1999 2016
dbSNP: rs104894397
rs104894397 		0.882 0.120 13 20189353 missense variant A/G snv 4.0E-05 1.1E-04
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 14 1997 2012
dbSNP: rs104894401
rs104894401 		0.851 0.120 13 20189154 missense variant C/T 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 14 2001 2015
dbSNP: rs111033451
rs111033451 		0.925 0.120 13 20189563 stop gained G/A snv 8.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1999 2016
dbSNP: rs1291519904
rs1291519904 		0.925 0.120 13 20189325 missense variant G/A;C snv 4.0E-06; 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 0.800 1.000 12 1998 2016
dbSNP: rs1801002
rs1801002 		0.925 0.120 13 20189547 missense variant C/A;T snv 9.2E-05; 7.2E-05
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 12 2000 2015
dbSNP: rs397516871
rs397516871 		1.000 0.120 13 20189303 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 12 1998 2012
dbSNP: rs779018464
rs779018464 		0.925 0.120 13 20189193 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 0.800 1.000 12 1998 2013
dbSNP: rs80338946
rs80338946 		1.000 0.120 13 20189243 missense variant A/C snv 1.2E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 12 1998 2013