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: rs61752416
rs61752416 		1.000 1 94042828 missense variant T/G snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 22 1997 2017
dbSNP: rs61749414
rs61749414 		0.882 0.080 1 94062611 stop gained G/A;T snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 21 1997 2017
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 20 1997 2014
dbSNP: rs61749428
rs61749428 		1.000 1 94056692 missense variant C/T snv 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 20 1997 2017
dbSNP: rs61753028
rs61753028 		1.000 1 94015763 missense variant A/G snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 20 1997 2017
dbSNP: rs281865397
rs281865397 		1.000 1 94103015 missense variant C/G snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs281865402
rs281865402 		1.000 1 94029446 missense variant T/C snv 2.1E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs281865405
rs281865405 		1.000 1 94000836 missense variant T/C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61748524
rs61748524 		1.000 1 94111566 missense variant G/C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61748526
rs61748526 		1.000 1 94111517 missense variant A/C snv 1.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 19 1997 2014
dbSNP: rs61748527
rs61748527 		1.000 1 94111510 missense variant A/G;T snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61748530
rs61748530 		1.000 1 94111442 missense variant A/G snv 1.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61748544
rs61748544 		1.000 1 94080678 missense variant G/T snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61748548
rs61748548 		1.000 1 94080559 missense variant A/C;G snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 19 1997 2014
dbSNP: rs61749429
rs61749429 		1.000 1 94056689 missense variant C/G;T snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61749432
rs61749432 		1.000 1 94055308 missense variant A/G snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61749436
rs61749436 		1.000 1 94055146 missense variant C/T snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61749448
rs61749448 		1.000 1 94046967 missense variant T/C snv 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61749456
rs61749456 		1.000 1 94044622 missense variant A/C snv 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61750060
rs61750060 		1.000 1 94043435 missense variant T/C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61750122
rs61750122 		1.000 1 94041396 missense variant G/T snv 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61750128
rs61750128 		1.000 1 94037209 missense variant A/G snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61750133
rs61750133 		1.000 1 94031033 missense variant G/A snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61750134
rs61750134 		1.000 1 94031026 missense variant C/A snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61750151
rs61750151 		1.000 1 94025014 missense variant A/G snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014