Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72552281
rs72552281
ALDH5A1
0.700 GeneticVariation UNIPROT Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. 14635103

2003
dbSNP: rs72552281
rs72552281
ALDH5A1
0.700 GeneticVariation UNIPROT Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene. 11901270

2002
dbSNP: rs72552281
rs72552281
ALDH5A1
0.700 GeneticVariation UNIPROT Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. 11243727

2001