ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61753043
rs61753043 		1.000 1 94001000 splice donor variant G/C snv 4.0E-06 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 2 2003 2017
dbSNP: rs61750651
rs61750651 		1.000 1 94001005 missense variant T/C snv 8.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61748520
rs61748520 		1.000 1 94001046 synonymous variant C/G;T snv 4.0E-06; 1.6E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2013 2013
dbSNP: rs62642565
rs62642565 		1.000 1 94001059 stop gained C/T snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2000 2000
dbSNP: rs886044761
rs886044761 		1.000 1 94001062 missense variant A/G snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs62642564
rs62642564 		0.925 0.040 1 94001068 missense variant C/G;T snv 1.5E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 6 1998 2017
dbSNP: rs62642564
rs62642564 		0.925 0.040 1 94001068 missense variant C/G;T snv 1.5E-03
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 1998 1998
dbSNP: rs2297669
rs2297669 		1.000 1 94001069 missense variant G/A;T snv 1.6E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs61750648
rs61750648 		1.000 1 94001072 missense variant G/A snv 1.0E-04 3.3E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 22 1997 2017
dbSNP: rs61750646
rs61750646 		1.000 1 94001102 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs886044760
rs886044760 		1.000 1 94001107 splice acceptor variant TG/CT mnv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs951379922
rs951379922 		1.000 0.080 1 94001908 missense variant T/G snv 4.0E-06
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs886044759
rs886044759 		1.000 1 94001910 missense variant C/T snv 8.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 2 2013 2017
dbSNP: rs61750645
rs61750645 		0.925 0.080 1 94001911 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 23 1997 2019
dbSNP: rs61750645
rs61750645 		0.925 0.080 1 94001911 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2008 2013
dbSNP: rs61750645
rs61750645 		0.925 0.080 1 94001911 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 1997 1997
dbSNP: rs1553186509
rs1553186509 		1.000 0.080 1 94001914 missense variant T/C snv
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs61753039
rs61753039 		1.000 0.080 1 94001961 missense variant A/C snv
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 3 2000 2001
dbSNP: rs41292677
rs41292677 		0.882 0.080 1 94001992 missense variant C/G snv 3.0E-03 3.0E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 5 1997 2017
dbSNP: rs41292677
rs41292677 		0.882 0.080 1 94001992 missense variant C/G snv 3.0E-03 3.0E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs41292677
rs41292677 		0.882 0.080 1 94001992 missense variant C/G snv 3.0E-03 3.0E-03
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		Eye Diseases 0.700 1.000 1 1997 1997
dbSNP: rs148460146
rs148460146 		1.000 1 94005469 missense variant C/T snv 3.1E-04 2.6E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
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 2 2003 2019
dbSNP: rs61753038
rs61753038 		0.851 0.080 1 94005470 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
RETINITIS PIGMENTOSA 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs61753038
rs61753038 		0.851 0.080 1 94005470 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0