Variant (rsID / SNP)

rs1138518

rs1138518 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTH1R. Location: chromosome 3, position 46,944,274. Clinical significance in the table: Benign.

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Reference-table entries

PTH1RBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:46944274
Cytoband: 3p21.31
HGVS: NM_000316.3(PTH1R):c.1389T>C (p.Asn463=)
Allele change: Synonymous_N463N

Associated conditions / phenotypes

Chondrodysplasia Blomstrand type|Metaphyseal chondrodysplasia, Jansen type|Primary failure of tooth eruption|Eiken syndrome

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.