Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs969485098
rs969485098
HSD17B4
T 0.700 GeneticVariation CLINVAR On the molecular basis of D-bifunctional protein deficiency type III. 23308274

2013
dbSNP: rs969485098
rs969485098
HSD17B4
T 0.700 GeneticVariation CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454

2006
dbSNP: rs969485098
rs969485098
HSD17B4
T 0.700 CausalMutation CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454

2006