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: 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: 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: 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: rs756840095
rs756840095
ABCA4
1.000 1 94042797 missense variant G/A snv 2.4E-05 6.3E-05
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.010 1.000 1 2002 2002
dbSNP: rs760549861
rs760549861
ABCA4
1.000 1 94014685 missense variant G/A snv 7.6E-05 7.0E-06
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.710 1.000 1 2008 2018
dbSNP: rs781716640
rs781716640
ABCA4
1.000 1 94080709 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.010 1.000 1 2007 2007
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: 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: 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: 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: 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: 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: 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: 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: rs1801269
rs1801269
ABCA4
0.851 0.080 1 94041345 missense variant C/A;T snv 3.1E-04; 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.810 1.000 1 1997 2017
dbSNP: rs1801581
rs1801581
ABCA4
0.925 0.080 1 94047009 missense variant C/A;T snv 2.8E-05; 3.0E-02
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.010 1.000 1 2008 2008
dbSNP: rs1801581
rs1801581
ABCA4
0.925 0.080 1 94047009 missense variant C/A;T snv 2.8E-05; 3.0E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 1.000 1 2008 2008
dbSNP: rs201471607
rs201471607
ABCA4
0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.810 1.000 1 1997 2019
dbSNP: rs201471607
rs201471607
ABCA4
0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.010 1.000 1 2014 2014
dbSNP: rs201471607
rs201471607
ABCA4
0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 1.000 1 2007 2007
dbSNP: rs201471607
rs201471607
ABCA4
0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.010 1.000 1 2018 2018
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