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: 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: 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: 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: rs61750120
rs61750120
ABCA4
0.882 0.160 1 94042767 missense variant G/A snv 1.2E-04 1.8E-04
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 1999 1999
dbSNP: rs61750200
rs61750200
ABCA4
0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 1999 1999
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: rs61750200
rs61750200
ABCA4
0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 2001 2001
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: 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: 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: 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: 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: rs61750200
rs61750200
ABCA4
0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		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: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.010 1.000 1 2004 2004
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: rs61750120
rs61750120
ABCA4
0.882 0.160 1 94042767 missense variant G/A snv 1.2E-04 1.8E-04
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.010 1.000 1 2006 2006
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: 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: 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: 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
dbSNP: rs281865404
rs281865404
ABCA4
0.851 0.080 1 94014675 missense variant GG/CA mnv
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 2007 2007
dbSNP: rs281865404
rs281865404
ABCA4
0.851 0.080 1 94014675 missense variant GG/CA mnv
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.010 1.000 1 2007 2007
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: 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