Variant (rsID / SNP)

rs104893834

rs104893834 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMP1. Location: chromosome 4, position 88,577,645. Clinical significance in the table: Pathogenic.

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Reference-table entries

DMP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:88577645
Cytoband: 4q22.1
HGVS: NM_004407.4(DMP1):c.1A>G (p.Met1Val)
Allele change: Missense_M1V

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.