Variant (rsID / SNP)

rs121908249

rs121908249 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENPP1. Location: chromosome 6, position 132,211,575. Clinical significance in the table: Pathogenic.

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Reference-table entries

ENPP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:132211575
Cytoband: 6q23.2
HGVS: NM_006208.3(ENPP1):c.2702A>C (p.Tyr901Ser)
Allele change: Missense_Y901S

Associated conditions / phenotypes

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.