Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1800553
rs1800553
ABCA4
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 		0.060 0.833 6 1999 2019
dbSNP: rs1800553
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.730 1.000 3 1997 2012
dbSNP: rs1800553
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.830 1.000 3 1997 2019
dbSNP: rs1800555
rs1800555
ABCA4
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 		0.030 0.667 3 2000 2015
dbSNP: rs1801466
rs1801466
ABCA4
1.000 1 94010911 missense variant T/A snv 4.3E-02 4.1E-02
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.730 1.000 3 2018 2019
dbSNP: rs1801466
rs1801466
ABCA4
1.000 1 94010911 missense variant T/A snv 4.3E-02 4.1E-02
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.030 1.000 3 2018 2019
dbSNP: rs76157638
rs76157638
ABCA4
0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.830 1.000 3 1997 2019
dbSNP: rs1800553
rs1800553
ABCA4
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 		0.020 1.000 2 2009 2016
dbSNP: rs1800553
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		0.020 1.000 2 2007 2019
dbSNP: rs1800553
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.720 1.000 2 1997 2019
dbSNP: rs61750200
rs61750200
ABCA4
0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.020 1.000 2 1998 1999
dbSNP: rs61751374
rs61751374
ABCA4
0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.820 1.000 2 1997 2019
dbSNP: rs61751374
rs61751374
ABCA4
0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.020 1.000 2 2000 2007
dbSNP: rs76157638
rs76157638
ABCA4
0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.720 1.000 2 1997 2014
dbSNP: rs121909205
rs121909205
ABCA4
1.000 1 94120994 missense variant G/A;T snv 1.6E-05; 3.6E-05
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.010 1.000 1 1998 1998
dbSNP: rs139250920
rs139250920
ABCA4
1.000 0.080 1 94055212 missense variant G/A snv 1.7E-04 2.8E-04
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.010 1.000 1 2004 2004
dbSNP: rs1800549
rs1800549
ABCA4
0.925 0.040 1 94030497 missense variant G/A snv 4.6E-03 1.6E-03
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 1999 1999
dbSNP: rs1800552
rs1800552
ABCA4
0.851 0.080 1 94010821 missense variant C/T snv 1.6E-03 1.5E-03
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.010 < 0.001 1 2018 2018
dbSNP: rs1800553
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 1.000 1 2019 2019
dbSNP: rs1800553
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.010 1.000 1 2019 2019
dbSNP: rs1800553
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C0422943
Disease: Visual symptoms
Visual symptoms 		0.010 1.000 1 2019 2019
dbSNP: rs1800553
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.010 1.000 1 2019 2019
dbSNP: rs1800553
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 2019 2019
dbSNP: rs1800553
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.010 1.000 1 2007 2007
dbSNP: rs1800553
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.010 1.000 1 2019 2019