Variant (rsID / SNP)

rs9947104

rs9947104 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAX. Location: chromosome 18, position 56,934,358. Clinical significance in the table: Likely benign.

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Reference-table entries

RAXLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:56934358
Cytoband: 18q21.32
HGVS: NM_013435.3(RAX):c.*1878T>C
Allele change: Silent

Associated conditions / phenotypes

Isolated microphthalmia 3

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.