Variant (rsID / SNP)

rs10019009

rs10019009 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMP1. Location: chromosome 4, position 88,583,135. Clinical significance in the table: Benign.

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Reference-table entries

DMP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:88583135
Cytoband: 4q22.1
HGVS: NM_004407.4(DMP1):c.205A>T (p.Ser69Cys)
Allele change: Missense_S69C

Associated conditions / phenotypes

Hypophosphatemic rickets, autosomal recessive, 1

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.