Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886044777
rs886044777
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.800 GeneticVariation UNIPROT Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. 8040304

1994
dbSNP: rs886044777
rs886044777
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.800 GeneticVariation UNIPROT Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). 7849723

1994
dbSNP: rs886044777
rs886044777
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.800 GeneticVariation UNIPROT Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy. 7904210

1993