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: 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: rs61750654
rs61750654
ABCA4
0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.710 1.000 1 2002 2002
dbSNP: rs61753038
rs61753038
ABCA4
0.851 0.080 1 94005470 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.710 1.000 1 2003 2019
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: 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: 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
dbSNP: rs61753033
rs61753033
ABCA4
0.882 0.080 1 94008767 missense variant A/G snv 2.0E-05
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 2002 2002
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: rs752160946
rs752160946
ABCA4
1.000 0.040 1 94010868 missense variant C/G;T snv 4.0E-06; 2.8E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2015 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: rs1801466
rs1801466
ABCA4
1.000 1 94010911 missense variant T/A snv 4.3E-02 4.1E-02
CUI: C0422943
Disease: Visual symptoms
Visual symptoms 		0.010 1.000 1 2019 2019
dbSNP: rs61753029
rs61753029
ABCA4
1.000 1 94014590 missense variant T/C snv 3.2E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.710 1.000 1 1997 2014
dbSNP: rs281865404
rs281865404
ABCA4
0.851 0.080 1 94014675 missense variant GG/CA mnv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.710 1.000 1 1997 2014
dbSNP: rs281865404
rs281865404
ABCA4
0.851 0.080 1 94014675 missense variant GG/CA mnv
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.010 1.000 1 2007 2007