LRAT, lecithin retinol acyltransferase, 9227

N. diseases: 84; N. variants: 7
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: rs104893848
rs104893848 		0.925 0.080 4 154744851 missense variant T/A;C snv 5.6E-05
CUI: C2750063
Disease: Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 3 2001 2007
dbSNP: rs201825
rs201825 		1.000 0.080 4 154745783 intron variant T/G snv 0.60
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2011 2011
dbSNP: rs104893848
rs104893848 		0.925 0.080 4 154744851 missense variant T/A;C snv 5.6E-05
CUI: C2750064
Disease: Retinal Dystrophy, Early-Onset Severe, Lrat-Related
Retinal Dystrophy, Early-Onset Severe, Lrat-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1560870755
rs1560870755 		0.925 0.080 4 154744543 frameshift variant AT/- del
CUI: C2750065
Disease: RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED
RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1560870755
rs1560870755 		0.925 0.080 4 154744543 frameshift variant AT/- del
CUI: C2750063
Disease: Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236079
rs527236079 		1.000 0.080 4 154744489 missense variant C/G;T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs761717462
rs761717462 		1.000 0.080 4 154744723 frameshift variant AA/-;AAA delins 4.0E-06
CUI: C2750064
Disease: Retinal Dystrophy, Early-Onset Severe, Lrat-Related
Retinal Dystrophy, Early-Onset Severe, Lrat-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs878853351
rs878853351 		4 154744799 stop gained G/A snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1448665709
rs1448665709 		1.000 0.040 4 154744844 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		Eye Diseases 0.010 1.000 1 2019 2019