Variant (rsID / SNP)

rs79345327

rs79345327 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLOD1. Location: chromosome 1, position 12,018,717. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PLOD1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:12018717
Cytoband: 1p36.22
HGVS: NM_000302.4(PLOD1):c.975+13C>T
Allele change: Silent

Associated conditions / phenotypes

Ehlers-Danlos syndrome, kyphoscoliotic type 1

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.