Variant (rsID / SNP)
rs1044498
rs1044498 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENPP1. Location: chromosome 6, position 132,172,368. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ENPP1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:132172368
- Cytoband
- 6q23.2
- HGVS
- NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln)
- Allele change
- Missense_K173Q
Associated conditions / phenotypes
Insulin resistance, susceptibility to|Obesity|Hypophosphatemic rickets, autosomal recessive, 2|Arterial calcification, generalized, of infancy, 1|Diabetes mellitus type 2, susceptibility to|Hypopigmentation-punctate palmoplantar keratoderma syndrome|Hypophosphatemic rickets|Type 2 diabetes mellitus
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.