MIP, major intrinsic protein of lens fiber, 4284

N. diseases: 181; N. variants: 21
Disease: Congenital lamellar 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: rs121917869
rs121917869 		0.851 0.080 12 56453715 missense variant T/C;G snv
CUI: C0266537
Disease: Congenital lamellar cataract
Congenital lamellar cataract 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2000 2000