MIP, major intrinsic protein of lens fiber, 4284

N. diseases: 181; N. variants: 21
Disease: 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: rs121917867
rs121917867 		0.925 0.040 12 56453703 missense variant G/A;C snv 4.0E-05
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2000 2000
dbSNP: rs121917869
rs121917869 		0.851 0.080 12 56453715 missense variant T/C;G snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1314710813
rs1314710813 		1.000 0.040 12 56454277 stop gained G/A;C snv 4.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2014 2014