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rs1057519068

From SNPedia

ClinVar
Risk rs1057519068(-;-)
Alt rs1057519068(-;-)
Reference Rs1057519068(GCTCCTGGAAGG;GCTCCTGGAAGG)
Significance Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32007873_32007884del12
CLNSRC
CLNACC RCV000416339.1,