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: rs1047376
rs1047376 		1.000 1 94041354 missense variant A/G;T snv 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 2 2014 2017
dbSNP: rs1057518767
rs1057518767 		0.851 0.120 1 94098874 missense variant A/T snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs1057518767
rs1057518767 		0.851 0.120 1 94098874 missense variant A/T snv
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518767
rs1057518767 		0.851 0.120 1 94098874 missense variant A/T snv
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		Eye Diseases 0.700 0
dbSNP: rs1057518767
rs1057518767 		0.851 0.120 1 94098874 missense variant A/T snv
CUI: C0042798
Disease: Low Vision
Low Vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518767
rs1057518767 		0.851 0.120 1 94098874 missense variant A/T snv
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518955
rs1057518955 		1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06
CUI: C0042798
Disease: Low Vision
Low Vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518955
rs1057518955 		1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		Eye Diseases 0.700 0
dbSNP: rs1064793013
rs1064793013 		1.000 0.080 1 94008300 splice region variant G/A;T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1064793014
rs1064793014 		1 94007707 missense variant T/C snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs113106943
rs113106943 		0.925 0.040 1 94021848 missense variant C/T snv 2.4E-03 2.3E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 2 2015 2017
dbSNP: rs113106943
rs113106943 		0.925 0.040 1 94021848 missense variant C/T snv 2.4E-03 2.3E-03
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs11806129
rs11806129 		1 94016821 intron variant A/G;T snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11806129
rs11806129 		1 94016821 intron variant A/G;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11806129
rs11806129 		1 94016821 intron variant A/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12087003
rs12087003 		1 94037627 intron variant A/G snv 6.3E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12087003
rs12087003 		1 94037627 intron variant A/G snv 6.3E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12087003
rs12087003 		1 94037627 intron variant A/G snv 6.3E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs121909204
rs121909204 		1.000 1 94043443 missense variant G/A snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs121909205
rs121909205 		1.000 1 94120994 missense variant G/A;T snv 1.6E-05; 3.6E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 21 1997 2017
dbSNP: rs121909205
rs121909205 		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: rs121909206
rs121909206 		0.925 0.080 1 94015766 missense variant G/A;T 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: rs121909206
rs121909206 		0.925 0.080 1 94015766 missense variant G/A;T snv 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs121909207
rs121909207 		1.000 1 94014665 missense variant G/A;C snv 1.1E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs1297857869
rs1297857869 		1.000 1 94011330 missense variant A/G snv 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2013 2013