Gene: ABCA4 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61751374
rs61751374
ABCA4
0.020 GeneticVariation BEFREE The second most common STGD mutation, Ala1038Val, was seen in one patient with cone-rod dystrophy (CORD). 18024811

2007
dbSNP: rs61751374
rs61751374
ABCA4
0.020 GeneticVariation BEFREE One complex ABCA4 allele (L541P;A1038V) was found exclusively in German patients with CRD; one patient carried this complex allele homozygously, and five others were compound heterozygous. 10958761

2000
dbSNP: rs1800553
rs1800553
ABCA4
0.010 GeneticVariation BEFREE Homozygosity for a novel complex allele G1961E/L857P causes a childhood-onset cone-rod dystrophy rather than the young-adult-onset macular dystrophy that is associated with G1961E alone. 31318848

2019
dbSNP: rs61749414
rs61749414
ABCA4
0.010 GeneticVariation BEFREE Two variants, p.Gln294Ter and p.Gln636Lys, were associated with severe phenotypes, such as early-onset RP and CRD. 31814693

2019
dbSNP: rs768435443
rs768435443
ABCA4
0.010 GeneticVariation BEFREE Homozygosity for a novel complex allele G1961E/L857P causes a childhood-onset cone-rod dystrophy rather than the young-adult-onset macular dystrophy that is associated with G1961E alone. 31318848

2019
dbSNP: rs794727903
rs794727903
ABCA4
0.010 GeneticVariation BEFREE Two variants, p.Gln294Ter and p.Gln636Lys, were associated with severe phenotypes, such as early-onset RP and CRD. 31814693

2019
dbSNP: rs281865404
rs281865404
ABCA4
0.010 GeneticVariation BEFREE We found a new pathologic ATP-binding cassette transporter (ABCA4) splice-site mutation, c.3523-2A>T and the previously reported c.5327C>T (p.P1776L) missense mutation in the arCRD patients. 17893657

2007
dbSNP: rs61753033
rs61753033
ABCA4
0.010 GeneticVariation BEFREE In family I, we have shown cosegregation of different ABCA4 alleles with CRD (homozygosity for L1940P) and three subtypes of STGD/FFM. 12442277

2002
dbSNP: rs61750200
rs61750200
ABCA4
0.010 GeneticVariation BEFREE In the Spanish collection, R212C was found in a CRD patient, indicating that it may be a rather severe change. 11385708

2001
dbSNP: rs61751392
rs61751392
ABCA4
0.010 GeneticVariation BEFREE One complex ABCA4 allele (L541P;A1038V) was found exclusively in German patients with CRD; one patient carried this complex allele homozygously, and five others were compound heterozygous. 10958761

2000