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rs104894089(A;G)

From SNPedia
(Redirected from I5007376(C;T))
Carrier of a mutation for lipoid congenital adrenal hyperplasia (LCAH)
Is agenotype
ofrs104894089
GeneSTAR
Chromosome8
Position38,146,054
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 9.1 Lipoid congenital adrenal hyperplasia (LCAH); treatment required
(A;G) 3 Carrier of a mutation for lipoid congenital adrenal hyperplasia (LCAH)
(G;G) 0 common in clinvar

Unaffected in absence of a second mutation in the STAR gene; see STAR gene for discussion and ClinVar links.