RLBP1, retinaldehyde binding protein 1, 6017

N. diseases: 67; N. variants: 6
Disease: Bothnia Retinal Dystrophy ×
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: rs28933990
rs28933990 		0.851 0.080 15 89210794 missense variant G/A;C snv 8.6E-05; 4.8E-06
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
Bothnia Retinal Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 1999 1999
dbSNP: rs786205626
rs786205626 		0.925 0.080 15 89217169 inframe deletion GCAGGAAGAAGC/- delins
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
Bothnia Retinal Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0