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rs786204728

From SNPedia

ClinVar
Risk rs786204728(ACGAGGAGAA;ACGAGGAGAA)
Alt rs786204728(ACGAGGAGAA;ACGAGGAGAA)
Reference rs786204728(TCGTGGAGAT;TCGTGGAGAT)
Significance Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32007584_32007593delTCGTGGAGATinsACGAGGAGAA
CLNSRC
CLNACC RCV000169566.1,