Variant (rsID / SNP)

rs281865151

rs281865151 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZNF469. Location: chromosome 16, position 88,501,709. 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: 16:88501709
Cytoband: 16q24.2
HGVS: NM_001367624.2(ZNF469):c.7831G>A (p.Glu2611Lys)
Allele change: Missense_E2583K

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.