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: rs62642575
rs62642575
1.000 1 94024978 missense variant G/A snv 1.3E-04 5.6E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
0.800 1.000 20 1997 2017
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: rs201855602
rs201855602
1.000 1 94043470 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
0.800 1.000 19 1997 2014
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: rs281865400
rs281865400
1.000 1 94044743 missense variant A/C;G snv 4.0E-06
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: rs281865407
rs281865407
1.000 1 93996137 missense variant C/A;G;T snv 4.0E-06; 2.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
0.700 1.000 19 1997 2014
dbSNP: rs58331765
rs58331765
1.000 1 94047046 missense variant C/A;T snv 3.9E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
0.800 1.000 19 1997 2014
dbSNP: rs61748521
rs61748521
1.000 1 93997869 missense variant G/A;C snv 4.0E-06; 1.1E-04
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: rs61748529
rs61748529
1.000 1 94111454 missense variant T/C;G snv 8.0E-06; 4.0E-06
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: rs61748535
rs61748535
1.000 1 94098988 missense variant C/T snv 4.3E-04 1.5E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
0.700 1.000 19 1997 2014
dbSNP: rs61748536
rs61748536
1.000 1 94098944 missense variant G/A;C snv 6.6E-04; 1.1E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
0.700 1.000 19 1997 2014
dbSNP: rs61748538
rs61748538
1.000 1 94098904 missense variant G/A 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: 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: rs61748546
rs61748546
1.000 1 94080580 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
0.700 1.000 19 1997 2014
dbSNP: rs61748547
rs61748547
1.000 1 94080570 missense variant G/C snv 2.0E-05
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: rs61748549
rs61748549
1.000 1 94079421 missense variant A/T snv 5.5E-04 6.5E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
0.700 1.000 19 1997 2014
dbSNP: rs61748552
rs61748552
1.000 1 94078611 missense variant G/C snv 8.0E-06 8.3E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
0.800 1.000 19 1997 2014
dbSNP: rs61748557
rs61748557
1.000 1 94063227 missense variant C/A;G;T snv 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
0.700 1.000 19 1997 2014