Variant (rsID / SNP)

rs117531639

rs117531639 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENPP1. Location: chromosome 6, position 132,213,727. Clinical significance in the table: Likely benign.

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Reference-table entries

ENPP1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:132213727
Cytoband: 6q23.2
HGVS: NM_006208.3(ENPP1):c.*2076C>T
Allele change: Silent

Associated conditions / phenotypes

Arterial calcification, generalized, of infancy, 1|Hypophosphatemic rickets, autosomal recessive, 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.