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rs193922093(-;C)

From SNPedia
(Redirected from Rs193922093(D;I))
Carrier of X-linked adrenoleukodystrophy mutation; probably unaffected
Is agenotype
ofrs193922093
GeneABCD1
ChromosomeX
Position153,736,486
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 3 Carrier of X-linked adrenoleukodystrophy mutation; probably unaffected
(C;C) 7.7 X-linked adrenoleukodystrophy; "probable pathogenic" in ClinVar

See text at ABCD1 gene page; note this is a "probable pathogenic"