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Variant (rsID / SNP)

rs55849640

EFEMP1

rs55849640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFEMP1. Location: chromosome 2, position 56,145,171. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EFEMP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:56145171
Cytoband
2p16.1
HGVS
NM_001039348.3(EFEMP1):c.146A>C (p.Asp49Ala)
Allele change
Missense_D49A

Associated conditions / phenotypes

Doyne honeycomb retinal dystrophy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.