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Variant (rsID / SNP)

rs370865189

COL1A1

rs370865189 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A1. Location: chromosome 17, position 48,264,489. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL1A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:48264489
Cytoband
17q21.33
HGVS
NM_000088.4(COL1A1):c.3424-6C>A
Allele change
Silent

Associated conditions / phenotypes

Infantile cortical hyperostosis|Osteogenesis imperfecta|Ehlers-Danlos syndrome, arthrochalasis type|Osteogenesis imperfecta type I

Public references

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