Variant (rsID / SNP)

rs11570255

rs11570255 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDN3. Location: chromosome 20, position 57,875,916. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EDN3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 20:57875916
Cytoband: 20q13.32
HGVS: NM_207034.3(EDN3):c.49G>A (p.Ala17Thr)
Allele change: Missense_A17T

Associated conditions / phenotypes

Hirschsprung disease, susceptibility to, 4

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.