Variant (rsID / SNP)

rs17847050

rs17847050 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENPP1. Location: chromosome 6, position 132,181,533. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ENPP1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:132181533
Cytoband: 6q23.2
HGVS: NM_006208.3(ENPP1):c.802T>C (p.Tyr268His)
Allele change: Missense_Y268H

Associated conditions / phenotypes

Hypophosphatemic rickets, autosomal recessive, 2|Arterial calcification, generalized, of infancy, 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.