RBP3, retinol binding protein 3, 5949

N. diseases: 73; N. variants: 5
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: rs146150511
rs146150511 		0.925 0.080 10 47353508 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C3715216
Disease: RETINITIS PIGMENTOSA 66
RETINITIS PIGMENTOSA 66 		0.800 1.000 2 2009 2013
dbSNP: rs11204213
rs11204213 		10 47351134 missense variant G/A snv 6.8E-03 2.7E-03
CUI: C0524957
Disease: Corneal Topography
Corneal Topography 		0.800 1.000 1 2014 2014
dbSNP: rs782215106
rs782215106 		10 47348733 missense variant C/A;T snv 4.0E-06; 3.2E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs782469310
rs782469310 		10 47349721 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs782604129
rs782604129 		1.000 0.080 10 47349309 inframe deletion TTC/- delins 2.0E-05
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs146150511
rs146150511 		0.925 0.080 10 47353508 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2013 2013