Variant (rsID / SNP)

rs104894389

rs104894389 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDNRB. Location: chromosome 13, position 78,475,320. Clinical significance in the table: risk factor.

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Reference-table entries

EDNRBRisk factor

Clinical significance (as recorded): risk factor
Variant type: single nucleotide variant
Chromosome / position: 13:78475320
Cytoband: 13q22.3
HGVS: NM_001122659.3(EDNRB):c.824G>A (p.Trp275Ter)
Allele change: Silent

Associated conditions / phenotypes

Hirschsprung disease, susceptibility to, 2

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.