Variant (rsID / SNP)

rs868045

rs868045 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAS8. Location: chromosome 16, position 90,102,835. Clinical significance in the table: Benign.

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Reference-table entries

GAS8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:90102835
Cytoband: 16q24.3
HGVS: NM_001481.3(GAS8):c.597A>G (p.Glu199=)
Allele change: Synonymous_E174E

Associated conditions / phenotypes

Primary ciliary dyskinesia 33

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.