Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776989258
rs776989258
CYP21A2 ; TNXB
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		0.020 GeneticVariation BEFREE Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency. 26184415

2015
dbSNP: rs776989258
rs776989258
CYP21A2 ; TNXB
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		0.020 GeneticVariation BEFREE These results indicate that P105L and P453S can be expected to result in a very subtle disease manifestation when not found in combination, motivating their inclusion when genotyping to ascertain undiagnosed patients with the mildest forms of 21-hydroxylase deficiency. 8989258

1997