GJB6, gap junction protein beta 6, 10804

N. diseases: 176; N. variants: 14
Disease: Nonsyndromic Deafness ×
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: 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: rs776848994
rs776848994 		1.000 0.120 13 20223480 start lost T/C snv 1.6E-05 4.2E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs780320724
rs780320724 		0.925 0.120 13 20223362 missense variant G/A snv 5.6E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2011 2011