Variant (rsID / SNP)

rs76764689

rs76764689 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,595,928. Clinical significance in the table: Likely pathogenic; risk factor.

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Reference-table entries

RETLikely pathogenic

Clinical significance (as recorded): Likely pathogenic; risk factor
Variant type: single nucleotide variant
Chromosome / position: 10:43595928
Cytoband: 10q11.21
HGVS: NM_020975.6(RET):c.95C>T (p.Ser32Leu)
Allele change: Missense_S32L

Associated conditions / phenotypes

Hirschsprung disease, susceptibility to, 1|Aganglionic megacolon

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.