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rs1057519568

From SNPedia

ClinVar
Risk rs1057519568(-;-)
Alt rs1057519568(-;-)
Reference Rs1057519568(AGGTGGG;AGGTGGG)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene PIH1D3
CLNDBN Ciliary dyskinesia, primary, 36, X-linked
Reversed 0
HGVS NC_000023.10:g.106465999_106466005delGGTGGGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000417064.1,