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: 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: rs80338942
rs80338942 		0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs35887622
rs35887622 		0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.740 0.833 6 2001 2012
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: 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: rs1057517519
rs1057517519 		0.925 0.120 13 20189523 missense variant A/G snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338939
rs80338939 		0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338941
rs80338941 		1.000 0.120 13 20189526 missense variant C/A;G snv 2.8E-05; 1.2E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 1 2005 2005
dbSNP: rs104894408
rs104894408 		0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic 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: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs72474224
rs72474224 		0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 0.900 10 2004 2017
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: rs104894398
rs104894398 		0.776 0.280 13 20189443 stop gained C/A;T snv 1.3E-04; 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033190
rs111033190 		0.925 0.120 13 20189487 missense variant C/A;T snv 3.2E-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: rs1801002
rs1801002 		0.925 0.120 13 20189547 missense variant C/A;T snv 9.2E-05; 7.2E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs28931594
rs28931594 		0.790 0.280 13 20189434 missense variant C/A;T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs587783645
rs587783645 		1.000 0.120 13 20189424 missense variant C/A;T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs786204734
rs786204734 		1.000 0.120 13 20192783 splice region variant C/A;T snv
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: rs104894407
rs104894407 		0.925 0.120 13 20189450 stop gained C/G;T snv 2.8E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 1 2001 2001
dbSNP: rs2274084
rs2274084 		0.882 0.240 13 20189503 missense variant C/T snv 5.4E-02 2.2E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.020 0.500 2 2005 2009
dbSNP: rs28931593
rs28931593 		0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.020 1.000 2 2002 2014
dbSNP: rs104894396
rs104894396 		0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 1 2019 2019
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: 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