Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557055260
rs1557055260
ABCD1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: adrenoleukodystrophy. 22071894

2012
dbSNP: rs1557055260
rs1557055260
ABCD1
G 0.800 GeneticVariation CLINVAR Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes. 20661612

2011
dbSNP: rs1557055260
rs1557055260
ABCD1
G 0.800 GeneticVariation CLINVAR Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India. 21966424

2011
dbSNP: rs1557055260
rs1557055260
ABCD1
G 0.800 GeneticVariation CLINVAR Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression. 21476988

2011
dbSNP: rs1557055260
rs1557055260
ABCD1
G 0.800 GeneticVariation CLINVAR ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. 11748843

2001
dbSNP: rs1557055260
rs1557055260
ABCD1
G 0.800 GeneticVariation CLINVAR Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. 7825602

1995