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Variant (rsID / SNP)

rs1801710

EDNRB

rs1801710 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDNRB. Location: chromosome 13, position 78,492,540. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EDNRBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:78492540
Cytoband
13q22.3
HGVS
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser)
Allele change
Missense_G147S

Associated conditions / phenotypes

Hirschsprung disease, susceptibility to, 2

Public references

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