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rs1064792947

From SNPedia

ClinVar
Risk rs1064792947(-;-)
Alt rs1064792947(-;-)
Reference Rs1064792947(GTAAGTTGCGGAGCATG;GTAAGTTGCGGAGCATG)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene RSPH1
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000021.8:g.43902730_43902746del17
CLNSRC
CLNACC RCV000462475.1,