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Variant (rsID / SNP)

rs148185533

TNFRSF11A

rs148185533 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNFRSF11A. Location: chromosome 18, position 60,029,014. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TNFRSF11AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:60029014
Cytoband
18q21.33
HGVS
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu)
Allele change
Silent

Associated conditions / phenotypes

Bone Paget disease|Osteopetrosis|Autosomal recessive osteopetrosis 7|Familial expansile osteolysis|Paget disease of bone 2, early-onset

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.