ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: Macular dystrophy ×
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: 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 		Eye Diseases 0.720 1.000 4 1997 2019
dbSNP: rs1800728
rs1800728 		0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 2 2005 2019
dbSNP: rs281865377
rs281865377 		0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 2 2001 2008
dbSNP: rs1553192682
rs1553192682 		1.000 0.040 1 94063115 missense variant T/C snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs201471607
rs201471607 		0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs61748545
rs61748545 		0.925 0.040 1 94080651 missense variant G/C snv 1.0E-04 3.8E-04
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2001 2001
dbSNP: rs61748556
rs61748556 		0.925 0.040 1 94063263 missense variant G/A snv 2.4E-05 2.8E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2003 2003
dbSNP: rs61749455
rs61749455 		0.882 0.080 1 94044692 stop gained C/A;G;T snv 5.6E-04; 4.0E-06
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2003 2003
dbSNP: rs61750641
rs61750641 		0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs61751263
rs61751263 		0.882 0.080 1 94060760 splice acceptor variant C/T snv 4.2E-06 1.4E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 1999 1999
dbSNP: rs61751374
rs61751374 		0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs61751392
rs61751392 		0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs61751402
rs61751402 		0.882 0.080 1 94029515 missense variant C/T snv 6.3E-05 5.6E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2019 2019
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: rs62645944
rs62645944 		0.807 0.080 1 94098794 splice region variant C/A snv 8.8E-05 6.3E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs778234759
rs778234759 		0.925 0.040 1 94018445 intron variant C/T snv 1.3E-04
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1553195472
rs1553195472 		1.000 0.040 1 94098843 missense variant A/C snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 0
dbSNP: rs1553196583
rs1553196583 		0.925 0.040 1 94111453 frameshift variant T/- delins
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 0
dbSNP: rs768435443
rs768435443 		0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.010 1.000 1 2019 2019