Variant (rsID / SNP)

rs1805138

rs1805138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENPP1. Location: chromosome 6, position 132,206,094. Clinical significance in the table: Benign.

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Reference-table entries

ENPP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:132206094
Cytoband: 6q23.2
HGVS: NM_006208.3(ENPP1):c.2335A>C (p.Thr779Pro)
Allele change: Missense_T779P

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.