GJB6, gap junction protein beta 6, 10804

N. diseases: 176; N. variants: 14
Disease: Keratitis-Ichthyosis-Deafness Syndrome ×
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: rs104894415
rs104894415 		0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06
CUI: C3665333
Disease: Keratitis-Ichthyosis-Deafness Syndrome
Keratitis-Ichthyosis-Deafness Syndrome 		Eye Diseases 0.010 1.000 1 2004 2004
dbSNP: rs104894416
rs104894416 		0.882 0.160 13 20223371 missense variant A/T snv 4.0E-06
CUI: C3665333
Disease: Keratitis-Ichthyosis-Deafness Syndrome
Keratitis-Ichthyosis-Deafness Syndrome 		Eye Diseases 0.010 1.000 1 2014 2014