Variant (rsID / SNP)

rs36094464

rs36094464 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSPP. Location: chromosome 4, position 88,533,540. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DSPPBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:88533540
Cytoband: 4q22.1
HGVS: NM_014208.3(DSPP):c.202A>T (p.Arg68Trp)
Allele change: Missense_R68W

Associated conditions / phenotypes

Dentinogenesis imperfecta type 2

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.