GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
Disease: Microcornea ×
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: rs80358205
rs80358205 		0.925 0.080 1 147908548 missense variant G/A snv
CUI: C0266544
Disease: Microcornea
Microcornea 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0