COL8A2, collagen type VIII alpha 2 chain, 1296

N. diseases: 35; N. variants: 13
Disease: Fleck corneal dystrophy ×
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: rs80358192
rs80358192 		0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2005 2005