Variant (rsID / SNP)

rs6704

rs6704 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINH1. Location: chromosome 11, position 75,283,653. Clinical significance in the table: Benign.

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Reference-table entries

SERPINH1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:75283653
Cytoband: 11q13.5
HGVS: NM_001235.5(SERPINH1):c.*525C>A
Allele change: Silent

Associated conditions / phenotypes

Osteogenesis imperfecta type 10

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.