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: rs886044720
rs886044720
ABCA4
0.925 0.080 1 94112973 missense variant A/C snv
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.010 1.000 1 2004 2004
dbSNP: rs61751392
rs61751392
ABCA4
0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 2000 2000
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: rs768435443
rs768435443
ABCA4
0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2019 2019
dbSNP: rs768435443
rs768435443
ABCA4
0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 2019 2019
dbSNP: rs768435443
rs768435443
ABCA4
0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.010 1.000 1 2019 2019
dbSNP: rs768435443
rs768435443
ABCA4
0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06
CUI: C0422943
Disease: Visual symptoms
Visual symptoms 		0.010 1.000 1 2019 2019
dbSNP: rs768435443
rs768435443
ABCA4
0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 1.000 1 2019 2019
dbSNP: rs768435443
rs768435443
ABCA4
0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.010 1.000 1 2019 2019
dbSNP: rs768435443
rs768435443
ABCA4
0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.010 1.000 1 2019 2019
dbSNP: rs768435443
rs768435443
ABCA4
0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		0.010 1.000 1 2019 2019
dbSNP: rs62645944
rs62645944
ABCA4
0.807 0.080 1 94098794 splice region variant C/A snv 8.8E-05 6.3E-05
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.010 1.000 1 2004 2004
dbSNP: rs62645944
rs62645944
ABCA4
0.807 0.080 1 94098794 splice region variant C/A snv 8.8E-05 6.3E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.710 1.000 1 1999 2017
dbSNP: rs62645944
rs62645944
ABCA4
0.807 0.080 1 94098794 splice region variant C/A snv 8.8E-05 6.3E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.710 1.000 1 2004 2019
dbSNP: rs61749455
rs61749455
ABCA4
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 		0.010 1.000 1 2004 2004
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: 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: 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: rs61748537
rs61748537
ABCA4
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 		0.010 1.000 1 2018 2018
dbSNP: rs61748537
rs61748537
ABCA4
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 		0.010 1.000 1 2016 2016
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: 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