Variant (rsID / SNP)

rs273585626

rs273585626 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZNF469. Location: chromosome 16, position 88,503,009. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ZNF469Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:88503009
Cytoband: 16q24.2
HGVS: NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met)
Allele change: Missense_T3016M

Associated conditions / phenotypes

Keratoconus 1

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.