Variant (rsID / SNP)

rs1042840

rs1042840 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMP13. Location: chromosome 11, position 102,814,110. Clinical significance in the table: Benign.

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Reference-table entries

MMP13Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:102814110
Cytoband: 11q22.2
HGVS: NM_002427.4(MMP13):c.*885A>G
Allele change: Silent

Associated conditions / phenotypes

Metaphyseal anadysplasia|Spondyloepimetaphyseal dysplasia, Missouri type

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.