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rs80358218(C;C)

From SNPedia

3HSDB2 deficiency; congenital adrenal hyperplasia
Is agenotype
ofrs80358218
GeneHSD3B2
Chromosome1
Position119,422,620
mentionedby
Magnitude7
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 Unaffected carrier of a 3HSDB2 deficiency mutation
(C;C) 7 3HSDB2 deficiency; congenital adrenal hyperplasia

see HSD3B2