Variant (rsID / SNP)

rs116107386

rs116107386 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AP1S3. Location: chromosome 2, position 224,642,579. Clinical significance in the table: Benign.

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Reference-table entries

AP1S3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:224642579
Cytoband: 2q36.1
HGVS: NM_001039569.2(AP1S3):c.11T>G (p.Phe4Cys)
Allele change: Silent

Associated conditions / phenotypes

Psoriasis 15, pustular, susceptibility to

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.