Variant (rsID / SNP)

rs9943208

rs9943208 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHIT1. Location: chromosome 1, position 203,186,963. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CHIT1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:203186963
Cytoband: 1q32.1
HGVS: NM_003465.3(CHIT1):c.1060G>A (p.Gly354Arg)
Allele change: Silent

Associated conditions / phenotypes

Chitotriosidase deficiency

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.