Variant (rsID / SNP)

rs79393107

rs79393107 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DUOX2. Location: chromosome 15, position 45,392,382. 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: 15:45392382
Cytoband: 15q21.1
HGVS: NM_001363711.2(DUOX2):c.3050A>G (p.Glu1017Gly)
Allele change: Missense_E1017G

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.