RLBP1, retinaldehyde binding protein 1, 6017

N. diseases: 67; N. variants: 6
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: rs137853290
rs137853290 		0.882 0.040 15 89215133 missense variant C/G;T snv 8.0E-06; 8.0E-06
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		Eye Diseases 0.810 1.000 3 1997 2001
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: rs137853290
rs137853290 		0.882 0.040 15 89215133 missense variant C/G;T snv 8.0E-06; 8.0E-06
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		Eye Diseases 0.710 1.000 1 2001 2001
dbSNP: rs28933990
rs28933990 		0.851 0.080 15 89210794 missense variant G/A;C snv 8.6E-05; 4.8E-06
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		Eye Diseases 0.710 1.000 1 2012 2012
dbSNP: rs137853291
rs137853291 		0.851 0.080 15 89211750 missense variant A/T snv 4.4E-05 2.8E-05
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		Eye Diseases 0.700 1.000 3 1997 2001
dbSNP: rs137853291
rs137853291 		0.851 0.080 15 89211750 missense variant A/T snv 4.4E-05 2.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 1999 1999
dbSNP: rs137853291
rs137853291 		0.851 0.080 15 89211750 missense variant A/T snv 4.4E-05 2.8E-05
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		Eye Diseases 0.700 0
dbSNP: rs1379405913
rs1379405913 		1.000 0.080 15 89215077 frameshift variant GACTT/- delins 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1567124404
rs1567124404 		0.925 0.080 15 89218627 frameshift variant T/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1567124404
rs1567124404 		0.925 0.080 15 89218627 frameshift variant T/- delins
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		Eye Diseases 0.700 0
dbSNP: rs28933990
rs28933990 		0.851 0.080 15 89210794 missense variant G/A;C snv 8.6E-05; 4.8E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs786205626
rs786205626 		0.925 0.080 15 89217169 inframe deletion GCAGGAAGAAGC/- delins
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		Eye Diseases 0.700 0
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
dbSNP: rs28933990
rs28933990 		0.851 0.080 15 89210794 missense variant G/A;C snv 8.6E-05; 4.8E-06
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2001 2008
dbSNP: rs137853290
rs137853290 		0.882 0.040 15 89215133 missense variant C/G;T snv 8.0E-06; 8.0E-06
CUI: C4551633
Disease: Pigmentary retinal dystrophy
Pigmentary retinal dystrophy 		Eye Diseases 0.010 1.000 1 2001 2001
dbSNP: rs137853291
rs137853291 		0.851 0.080 15 89211750 missense variant A/T snv 4.4E-05 2.8E-05
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2008 2008