Gene: CYP21A2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9332736
rs9332736
C2 ; CYP21A2 ; C2-AS1
A 0.700 GeneticVariation CLINVAR Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. 1577763

1992
dbSNP: rs9332736
rs9332736
C2 ; CYP21A2 ; C2-AS1
A 0.700 CausalMutation CLINVAR