Variant (rsID / SNP)

rs77048718

rs77048718 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTH1R. Location: chromosome 3, position 46,945,000. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PTH1RBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:46945000
Cytoband: 3p21.31
HGVS: NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys)
Allele change: Missense_E546K

Associated conditions / phenotypes

Metaphyseal chondrodysplasia, Jansen type|Chondrodysplasia Blomstrand type|Connective tissue disorder

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.