Variant (rsID / SNP)

rs148701985

rs148701985 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI1. Location: chromosome 9, position 34,459,050. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNAI1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:34459050
Cytoband: 9p13.3
HGVS: NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg)
Allele change: Missense_Q16R

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.