ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
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: rs61749455
rs61749455 		0.882 0.080 1 94044692 stop gained C/A;G;T snv 5.6E-04; 4.0E-06
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1057518767
rs1057518767 		0.851 0.120 1 94098874 missense variant A/T snv
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518767
rs1057518767 		0.851 0.120 1 94098874 missense variant A/T snv
CUI: C0042798
Disease: Low Vision
Low Vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518767
rs1057518767 		0.851 0.120 1 94098874 missense variant A/T snv
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518955
rs1057518955 		1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06
CUI: C0042798
Disease: Low Vision
Low Vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398123339
rs398123339 		0.851 0.120 1 94113068 splice acceptor variant T/C snv 4.0E-06
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398123339
rs398123339 		0.851 0.120 1 94113068 splice acceptor variant T/C snv 4.0E-06
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398123339
rs398123339 		0.851 0.120 1 94113068 splice acceptor variant T/C snv 4.0E-06
CUI: C0042798
Disease: Low Vision
Low Vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs61750654
rs61750654 		0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs61750654
rs61750654 		0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C0456909
Disease: Blindness
Blindness 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs61750654
rs61750654 		0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs61751406
rs61751406 		0.925 0.120 1 94014622 missense variant G/T snv 2.0E-05 2.8E-05
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs61748537
rs61748537 		0.882 0.160 1 94098906 missense variant C/G;T snv 4.0E-05; 8.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs61748537
rs61748537 		0.882 0.160 1 94098906 missense variant C/G;T snv 4.0E-05; 8.0E-06
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs373540612
rs373540612 		1.000 0.080 1 94098891 missense variant G/A snv 5.2E-05 2.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1800553
rs1800553 		0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.060 0.833 6 1999 2019
dbSNP: rs1800553
rs1800553 		0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.720 1.000 4 1997 2019
dbSNP: rs1800555
rs1800555 		1.000 0.040 1 93998061 missense variant C/T snv 1.1E-02 1.0E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.030 0.667 3 2000 2015
dbSNP: rs1762111
rs1762111 		0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 2 1997 2019
dbSNP: rs1800553
rs1800553 		0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		Eye Diseases 0.020 1.000 2 2009 2016
dbSNP: rs1800728
rs1800728 		0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 2 2005 2016
dbSNP: rs1800728
rs1800728 		0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 2 2005 2019
dbSNP: rs281865377
rs281865377 		0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 2 2001 2008
dbSNP: rs28938473
rs28938473 		0.882 0.040 1 94007731 missense variant G/A snv 3.0E-03 3.6E-03
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		Eye Diseases 0.700 1.000 2 1997 2009
dbSNP: rs61749409
rs61749409 		0.882 0.080 1 94062710 missense variant G/A snv 4.4E-05 2.1E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.710 1.000 2 1999 2014