Variant (rsID / SNP)

rs269868

rs269868 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DUOX2. Location: chromosome 15, position 45,392,075. Clinical significance in the table: Benign.

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Reference-table entries

DUOX2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:45392075
Cytoband: 15q21.1
HGVS: NM_001363711.2(DUOX2):c.3200C>T (p.Ser1067Leu)
Allele change: Missense_S1067L

Associated conditions / phenotypes

Thyroid dyshormonogenesis 6

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.