Variant (rsID / SNP)

rs2838952

rs2838952 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL18A1, SLC19A1. Location: chromosome 21, position 46,930,163. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COL18A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 21:46930163
Cytoband: 21q22.3
HGVS: NM_001379500.1(COL18A1):c.3681C>T (p.Ile1227=)
Allele change: Synonymous_I1224I

Associated conditions / phenotypes

Knobloch syndrome

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.