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: 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: 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: 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: 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: 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: 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: 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: 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: rs3112831
rs3112831
ABCA4
1.000 0.080 1 94078678 missense variant T/C;G snv 0.26 0.26
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.010 1.000 1 2017 2017
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: 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: 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