Variant (rsID / SNP)

rs3752095

rs3752095 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG1. Location: chromosome 18, position 28,934,681. Clinical significance in the table: Benign.

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Reference-table entries

DSG1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:28934681
Cytoband: 18q12.1
HGVS: NM_001942.4(DSG1):c.2522A>T (p.Tyr841Phe)
Allele change: Missense_Y841F

Associated conditions / phenotypes

Severe dermatitis-multiple allergies-metabolic wasting syndrome|Palmoplantar keratoderma i, striate, focal, or diffuse

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.