Variant (rsID / SNP)

rs727503032

rs727503032 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELN. Location: chromosome 7, position 73,474,207. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ELNConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:73474207
Cytoband: 7q11.23
HGVS: NM_000501.4(ELN):c.1415-9A>G
Allele change: Silent

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.