Variant (rsID / SNP)

rs79563212

rs79563212 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFEMP1. Location: chromosome 2, position 56,151,257. Clinical significance in the table: Benign.

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Reference-table entries

EFEMP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:56151257
Cytoband: 2p16.1
HGVS: NM_001039348.2(EFEMP1):c.-460C>A
Allele change: Silent

Associated conditions / phenotypes

Doyne honeycomb retinal dystrophy

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.