Variant (rsID / SNP)

rs1805088

rs1805088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMP9. Location: chromosome 20, position 44,637,624. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MMP9Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:44637624
Cytoband: 20q13.12
HGVS: NM_004994.3(MMP9):c.59C>T (p.Ala20Val)
Allele change: Missense_A20V

Associated conditions / phenotypes

Metaphyseal anadysplasia 2

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.