GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
Disease: Nuclear cataract ×
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: C0392557
Disease: Nuclear cataract
Nuclear cataract 		Eye Diseases 0.010 1.000 1 2011 2011