COL8A2, collagen type VIII alpha 2 chain, 1296

N. diseases: 35; N. variants: 13
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 ×
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: rs80358191
rs80358191 		0.882 0.080 1 36098318 missense variant G/T snv
CUI: C1852795
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2001 2001
dbSNP: rs80358192
rs80358192 		0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05
CUI: C1852795
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0