Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557052362
rs1557052362
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		T 0.700 GeneticVariation CLINVAR X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females. 15811009

2005
dbSNP: rs1557052362
rs1557052362
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		T 0.700 GeneticVariation CLINVAR X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset. 10480364

1999
dbSNP: rs1557052362
rs1557052362
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		T 0.700 GeneticVariation CLINVAR Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy. 10190819

1999
dbSNP: rs1557052362
rs1557052362
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		T 0.700 GeneticVariation CLINVAR Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). 7849723

1994