GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: hearing impairment ×
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: rs587783647
rs587783647 		0.925 0.120 13 20188932 frameshift variant TCTA/- delins 4.8E-05 2.1E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs587783646
rs587783646 		1.000 0.120 13 20188949 frameshift variant CA/- delins 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033294
rs111033294 		0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1566528185
rs1566528185 		1.000 0.120 13 20188976 stop gained -/AAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTC delins
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033335
rs111033335 		1.000 0.120 13 20188982 stop gained TCCAGACAC/GAATGTCATGAACACTG delins
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338950
rs80338950 		0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.730 0.667 3 2010 2017
dbSNP: rs998045226
rs998045226 		1.000 0.120 13 20189032 missense variant G/A snv 1.2E-05 2.8E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs774518779
rs774518779 		0.776 0.280 13 20189076 missense variant C/T snv 8.0E-06
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: 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: 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: rs80338948
rs80338948 		0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.720 1.000 2 2005 2019
dbSNP: rs76434661
rs76434661 		0.763 0.280 13 20189166 missense variant C/T snv 2.9E-04 4.6E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
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: rs111033196
rs111033196 		1.000 0.120 13 20189202 missense variant C/A;T snv 2.8E-04; 1.4E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs397516874
rs397516874 		1.000 0.120 13 20189212 stop gained G/A snv 8.4E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 1 2017 2017
dbSNP: rs111033295
rs111033295 		0.925 0.120 13 20189217 missense variant T/A;G snv 6.0E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338947
rs80338947 		1.000 0.120 13 20189222 inframe deletion CTC/- delins 7.2E-05 9.1E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs2274083
rs2274083 		0.925 0.200 13 20189241 missense variant T/C snv 1.5E-02 5.1E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.030 1.000 3 2009 2015
dbSNP: rs756484720
rs756484720 		1.000 0.120 13 20189247 frameshift variant TT/- delins 8.0E-06 1.4E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033253
rs111033253 		0.925 0.120 13 20189256 frameshift variant CTTGATGAACTTCC/- delins 1.5E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs143343083
rs143343083 		1.000 0.120 13 20189284 missense variant G/A snv 1.2E-05 2.8E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033299
rs111033299 		0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338945
rs80338945 		0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.720 1.000 2 2005 2007
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: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs781534323
rs781534323 		1.000 0.120 13 20189336 missense variant G/C snv 8.0E-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