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: 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: 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: rs61749409
rs61749409
ABCA4
0.882 0.080 1 94062710 missense variant G/A snv 4.4E-05 2.1E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.810 1.000 1 1997 2017
dbSNP: rs61751402
rs61751402
ABCA4
0.882 0.080 1 94029515 missense variant C/T snv 6.3E-05 5.6E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.810 1.000 1 1997 2017
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: rs560426
rs560426
ABCA4
0.851 0.200 1 94087882 intron variant C/T snv 0.53
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.710 0.500 1 2010 2012
dbSNP: rs61749409
rs61749409
ABCA4
0.882 0.080 1 94062710 missense variant G/A snv 4.4E-05 2.1E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.710 1.000 1 1999 2014
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: rs61751374
rs61751374
ABCA4
0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.710 1.000 1 1997 2016
dbSNP: rs61751374
rs61751374
ABCA4
0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.710 1.000 1 2008 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: 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: 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: 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: 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