MIP, major intrinsic protein of lens fiber, 4284

N. diseases: 181; N. variants: 21
Disease: Punctate 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: rs778327521
rs778327521 		0.925 0.040 12 56453668 missense variant C/G;T snv 1.6E-05; 3.6E-05
CUI: C0271165
Disease: Punctate cataract
Punctate cataract 		Eye Diseases 0.010 1.000 1 2015 2015