Variant (rsID / SNP)

rs117510013

rs117510013 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG4. Location: chromosome 18, position 28,983,448. Clinical significance in the table: Likely benign.

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Reference-table entries

DSG4Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:28983448
Cytoband: 18q12.1
HGVS: NM_177986.5(DSG4):c.1487A>G (p.Asn496Ser)
Allele change: Silent

Associated conditions / phenotypes

Hypotrichosis 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.