GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Porokeratotic eccrine ostial and dermal duct nevus ×
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: C0473579
Disease: Porokeratotic eccrine ostial and dermal duct nevus
Porokeratotic eccrine ostial and dermal duct nevus 		0.010 1.000 1 2015 2015
dbSNP: rs72561723
rs72561723 		0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06
CUI: C0473579
Disease: Porokeratotic eccrine ostial and dermal duct nevus
Porokeratotic eccrine ostial and dermal duct nevus 		0.010 1.000 1 2015 2015