Variant (rsID / SNP)

rs332811

rs332811 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RETREG1. Location: chromosome 5, position 16,508,674. Clinical significance in the table: Benign.

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Reference-table entries

RETREG1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:16508674
Cytoband: 5p15.1
HGVS: NM_001034850.3(RETREG1):c.459-25093T>C
Allele change: Silent

Associated conditions / phenotypes

Neuropathy, hereditary sensory and autonomic, type 2B

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.