Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72552758
rs72552758
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
0.010 GeneticVariation BEFREE A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency. 10443693

1999