Variant (rsID / SNP)

rs138460682

rs138460682 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI1. Location: chromosome 9, position 34,520,699. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DNAI1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:34520699
Cytoband: 9p13.3
HGVS: NM_012144.4(DNAI1):c.2045T>C (p.Ile682Thr)
Allele change: Missense_I686T

Associated conditions / phenotypes

Primary ciliary dyskinesia

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.