Variant (rsID / SNP)

rs79111113

rs79111113 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A2. Location: chromosome 2, position 189,910,426. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COL5A2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:189910426
Cytoband: 2q32.2
HGVS: NM_000393.5(COL5A2):c.3309+100C>T
Allele change: Silent

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.