Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750457
rs63750457
ABCC6
0.800 GeneticVariation UNIPROT Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. 25615550

2015
dbSNP: rs63750457
rs63750457
ABCC6
0.800 GeneticVariation UNIPROT An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. 20034067

2010
dbSNP: rs63750457
rs63750457
ABCC6
0.800 GeneticVariation UNIPROT Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals. 19339160

2009
dbSNP: rs63750457
rs63750457
ABCC6
0.800 GeneticVariation UNIPROT Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. 17617515

2007
dbSNP: rs63750457
rs63750457
ABCC6
0.800 GeneticVariation UNIPROT Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. 16086317

2005
dbSNP: rs63750457
rs63750457
ABCC6
0.800 GeneticVariation UNIPROT Novel ABCC6 mutations in pseudoxanthoma elasticum. 15086542

2004
dbSNP: rs63750457
rs63750457
ABCC6
0.800 GeneticVariation UNIPROT Does autosomal dominant pseudoxanthoma elasticum exist? 15098239

2004
dbSNP: rs63750457
rs63750457
ABCC6
0.800 GeneticVariation UNIPROT ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). 15459974

2004
dbSNP: rs63750457
rs63750457
ABCC6
0.800 GeneticVariation UNIPROT Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). 11880368

2002
dbSNP: rs63750457
rs63750457
ABCC6
0.800 GeneticVariation UNIPROT Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum. 11702217

2001
dbSNP: rs63750457
rs63750457
ABCC6
0.800 GeneticVariation UNIPROT A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. 11536079

2001
dbSNP: rs63750457
rs63750457
ABCC6
0.800 GeneticVariation UNIPROT Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface? 11427982

2001
dbSNP: rs63750457
rs63750457
ABCC6
0.800 GeneticVariation UNIPROT Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. 10835642

2000
dbSNP: rs63750457
rs63750457
ABCC6
0.800 GeneticVariation UNIPROT Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. 10811882

2000
dbSNP: rs63750457
rs63750457
ABCC6
0.800 GeneticVariation UNIPROT Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. 10954200

2000
dbSNP: rs63750457
rs63750457
ABCC6
T 0.800 CausalMutation CLINVAR