Variant (rsID / SNP)

rs397518421

rs397518421 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLS3. Clinical significance in the table: association.

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Reference-table entries

PLS3Association

Clinical significance (as recorded): association
Variant type: single nucleotide variant
Cytoband: Xq23
HGVS: NM_005032.7(PLS3):c.1471C>T (p.Gln491Ter)
Allele change: Nonsense_Q478X

Associated conditions / phenotypes

Bone mineral density quantitative trait locus 18

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.