Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6445
rs6445
CYP21A2 ; TNXB
0.030 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
dbSNP: rs6445
rs6445
CYP21A2 ; TNXB
0.030 GeneticVariation BEFREE Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency. 1406699

1992
dbSNP: rs6445
rs6445
CYP21A2 ; TNXB
0.030 GeneticVariation BEFREE R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions. 1406709

1992