GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
Disease: Cataract, Zonular Pulverulent 1 ×
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: rs121434643
rs121434643 		0.851 0.200 1 147908094 missense variant G/A;C snv
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.800 1.000 10 1998 2013
dbSNP: rs80358200
rs80358200 		1.000 0.040 1 147908217 missense variant C/T snv
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.800 0
dbSNP: rs80358201
rs80358201 		0.925 0.200 1 147908097 missense variant G/A snv
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.800 0
dbSNP: rs80358203
rs80358203 		1.000 0.040 1 147908023 missense variant G/C snv
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.800 0
dbSNP: rs80358204
rs80358204 		1.000 0.040 1 147908086 missense variant T/A snv
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.800 0
dbSNP: rs80358205
rs80358205 		0.925 0.080 1 147908548 missense variant G/A snv
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.800 0
dbSNP: rs864309688
rs864309688 		0.882 0.200 1 147908089 missense variant G/C snv 7.0E-06
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.700 1.000 4 2008 2016
dbSNP: rs397515627
rs397515627 		1.000 0.040 1 147908521 missense variant C/T snv
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.700 0
dbSNP: rs45619342
rs45619342 		1.000 0.040 1 147908782 missense variant C/T snv
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.700 0