Variant (rsID / SNP)

rs3744578

rs3744578 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH9. Location: chromosome 17, position 11,648,332. Clinical significance in the table: Benign.

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Reference-table entries

DNAH9Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:11648332
Cytoband: 17p12
HGVS: NM_001372.4(DNAH9):c.6330C>T (p.Asn2110=)
Allele change: Synonymous_N2110N

Associated conditions / phenotypes

Ciliary dyskinesia, primary, 40

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.