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: rs104894402
rs104894402 		0.882 0.200 13 20189359 missense variant G/A;C snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.720 1.000 2 2000 2001
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: 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: 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: 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: 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: 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: 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: 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: rs80338940
rs80338940 		0.763 0.280 13 20192782 splice donor variant C/T snv 2.3E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338943
rs80338943 		0.851 0.120 13 20189347 frameshift variant G/- delins 4.7E-04; 4.0E-06 2.1E-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: 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: 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: 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: 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: 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: 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
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: 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: 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: 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: 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