Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs782215106
rs782215106
RBP3
10 47348733 missense variant C/A;T snv 4.0E-06; 3.2E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 1.000 1 2016 2016
dbSNP: rs782469310
rs782469310
RBP3
10 47349721 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 1.000 1 2016 2016