Variant: rs9332736 

    present in Gene: C2-AS1;CYP21A2;C2
    present in Chromosome: 6
    Position on Chromosome: 31934289
    Alleles of this Variant: GTGGACAGGGTCAGGAATCAGGAGTCTG/-

rs9332736 in C2-AS1;CYP21A2;C2 gene and COMPLEMENT COMPONENT 2 DEFICIENCY PMID 1577763 1992 Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing.