Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200005406
rs200005406
CYP21A2 ; TNXB
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		0.010 GeneticVariation BEFREE Full-length sequencing of this allele displayed an Arg 484 to Pro codon change in exon 10, in the same position as a previously identified GG to C mutation found in a patient with severe 21-hydroxylase deficiency. 8478006

1993