Variant (rsID / SNP)

rs1805034

rs1805034 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNFRSF11A. Location: chromosome 18, position 60,027,241. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TNFRSF11ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:60027241
Cytoband: 18q21.33
HGVS: NM_003839.4(TNFRSF11A):c.575C>T (p.Ala192Val)
Allele change: Missense_A192V

Associated conditions / phenotypes

Osteopetrosis|Bone Paget disease|Increased bone mineral density

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.