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Variant (rsID / SNP)

rs4880

SOD2

rs4880 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOD2. Location: chromosome 6, position 160,113,872. Clinical significance in the table: Conflicting interpretations of pathogenicity; risk factor.

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Reference-table entries

SOD2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity; risk factor
Variant type
single nucleotide variant
Chromosome / position
6:160113872
Cytoband
6q25.3
HGVS
NM_000636.4(SOD2):c.47T>C (p.Val16Ala)
Allele change
Missense_V16A

Associated conditions / phenotypes

SUPEROXIDE DISMUTASE 2 POLYMORPHISM|Microvascular complications of diabetes, susceptibility to, 6

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.