Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs128624223
rs128624223
0.810 GeneticVariation UNIPROT Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation. 26686776

2016

dbSNP: rs398123102
rs398123102
0.810 GeneticVariation UNIPROT Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation. 26686776

2016

dbSNP: rs398123105
rs398123105
0.810 GeneticVariation UNIPROT Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation. 26686776

2016

dbSNP: rs128624223
rs128624223
0.810 GeneticVariation UNIPROT Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene. 23651979

2013

dbSNP: rs398123102
rs398123102
0.810 GeneticVariation UNIPROT Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene. 23651979

2013

dbSNP: rs398123105
rs398123105
0.810 GeneticVariation UNIPROT Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene. 23651979

2013

dbSNP: rs128624223
rs128624223
0.810 GeneticVariation UNIPROT Clinical utility gene card for: adrenoleukodystrophy. 22071894

2012

dbSNP: rs128624223
rs128624223
0.810 GeneticVariation UNIPROT X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. 21700483

2012

dbSNP: rs398123102
rs398123102
0.810 GeneticVariation UNIPROT Clinical utility gene card for: adrenoleukodystrophy. 22071894

2012

dbSNP: rs398123102
rs398123102
0.810 GeneticVariation UNIPROT X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. 21700483

2012

dbSNP: rs398123105
rs398123105
0.810 GeneticVariation UNIPROT X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. 21700483

2012

dbSNP: rs398123105
rs398123105
0.810 GeneticVariation UNIPROT Clinical utility gene card for: adrenoleukodystrophy. 22071894

2012

dbSNP: rs128624223
rs128624223
0.810 GeneticVariation UNIPROT Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy. 21889498

2011

dbSNP: rs398123102
rs398123102
0.810 GeneticVariation UNIPROT Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy. 21889498

2011

dbSNP: rs398123105
rs398123105
0.810 GeneticVariation UNIPROT Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy. 21889498

2011

dbSNP: rs128624223
rs128624223
0.810 GeneticVariation UNIPROT Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy. 15643618

2005

dbSNP: rs398123102
rs398123102
0.810 GeneticVariation UNIPROT Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy. 15643618

2005

dbSNP: rs398123105
rs398123105
0.810 GeneticVariation UNIPROT Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy. 15643618

2005

dbSNP: rs128624223
rs128624223
0.810 GeneticVariation UNIPROT Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange. 11438993

2001

dbSNP: rs128624223
rs128624223
0.810 GeneticVariation UNIPROT Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP. 11810273

2001

dbSNP: rs128624223
rs128624223
0.810 GeneticVariation UNIPROT Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. 11248239

2001

dbSNP: rs398123102
rs398123102
0.810 GeneticVariation UNIPROT Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. 11248239

2001

dbSNP: rs398123102
rs398123102
0.810 GeneticVariation UNIPROT Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange. 11438993

2001

dbSNP: rs398123102
rs398123102
0.810 GeneticVariation UNIPROT Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP. 11810273

2001

dbSNP: rs398123105
rs398123105
0.810 GeneticVariation UNIPROT Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange. 11438993

2001