Variant (rsID / SNP)

rs201537030

rs201537030 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYA1. Location: chromosome 8, position 72,111,663. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EYA1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:72111663
Cytoband: 8q13.3
HGVS: NM_000503.6(EYA1):c.1699-8T>C
Allele change: Silent

Associated conditions / phenotypes

Branchiootic syndrome 1|Otofaciocervical syndrome 1|Melnick-Fraser syndrome

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.