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: rs1057518767
rs1057518767 		0.851 0.120 1 94098874 missense variant A/T snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
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: C0521694
Disease: Atrophic retina
Atrophic retina 		Eye 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: rs1057518955
rs1057518955 		1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		Eye Diseases 0.700 0
dbSNP: rs1064793013
rs1064793013 		1.000 0.080 1 94008300 splice region variant G/A;T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121909204
rs121909204 		1.000 1 94043443 missense variant G/A snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs121909206
rs121909206 		0.925 0.080 1 94015766 missense variant G/A;T snv 4.0E-06
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121909206
rs121909206 		0.925 0.080 1 94015766 missense variant G/A;T snv 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs1356104318
rs1356104318 		1 94098850 stop gained G/A;C snv 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1457937638
rs1457937638 		1.000 1 94027444 intron variant C/A;T snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs148460146
rs148460146 		1.000 1 94005469 missense variant C/T snv 3.1E-04 2.6E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs149071415
rs149071415 		1 94047024 missense variant A/G snv 4.0E-05 8.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1553186509
rs1553186509 		1.000 0.080 1 94001914 missense variant T/C snv
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1553187160
rs1553187160 		1.000 0.080 1 94007741 splice acceptor variant C/A snv
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1553188588
rs1553188588 		1.000 0.080 1 94021235 splice region variant C/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1553188682
rs1553188682 		1.000 1 94021892 missense variant A/C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs1553188916
rs1553188916 		1.000 0.080 1 94025021 stop gained G/A snv
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1553189507
rs1553189507 		1.000 1 94031121 splice acceptor variant C/T snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs1553192715
rs1553192715 		1.000 1 94063250 frameshift variant AG/- delins
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs1553193813
rs1553193813 		1.000 0.080 1 94077747 stop gained C/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1553193813
rs1553193813 		1.000 0.080 1 94077747 stop gained C/T snv
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1553195472
rs1553195472 		1.000 0.040 1 94098843 missense variant A/C snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 0