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
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
0.830 1.000 3 1997 2019
dbSNP: rs76157638
rs76157638
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: rs61751374
rs61751374
0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
0.820 1.000 2 1997 2019
dbSNP: rs1801269
rs1801269
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
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
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
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: rs1800553
rs1800553
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: rs1801466
rs1801466
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: rs1800553
rs1800553
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
0.720 1.000 2 1997 2019
dbSNP: rs76157638
rs76157638
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: rs281865404
rs281865404
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
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
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
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
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
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
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
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
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
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
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: rs1800553
rs1800553
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: rs1800555
rs1800555
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: rs1801466
rs1801466
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