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Variant (rsID / SNP)

rs193922150

COL1A1

rs193922150 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A1. Location: chromosome 17, position 48,267,239. 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
17:48267239
Cytoband
17q21.33
HGVS
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His)
Allele change
Missense_R865H

Associated conditions / phenotypes

Osteogenesis imperfecta|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.