GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Keratitis ×
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: rs1057517491
rs1057517491 		0.776 0.240 13 20189448 frameshift variant C/- delins
CUI: C0022568
Disease: Keratitis
Keratitis 		Eye Diseases 0.030 1.000 3 2008 2013
dbSNP: rs72561723
rs72561723 		0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06
CUI: C0022568
Disease: Keratitis
Keratitis 		Eye Diseases 0.030 1.000 3 2008 2013
dbSNP: rs28929485
rs28929485 		0.807 0.320 13 20189532 missense variant G/A;C snv
CUI: C0022568
Disease: Keratitis
Keratitis 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs28931594
rs28931594 		0.790 0.280 13 20189434 missense variant C/A;T snv
CUI: C0022568
Disease: Keratitis
Keratitis 		Eye Diseases 0.010 1.000 1 2013 2013