Variant (rsID / SNP)

rs114322680

rs114322680 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A2. Location: chromosome 7, position 94,039,540. Clinical significance in the table: Benign.

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Reference-table entries

COL1A2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:94039540
Cytoband: 7q21.3
HGVS: NM_000089.4(COL1A2):c.1036-14G>A
Allele change: Silent

Associated conditions / phenotypes

Osteogenesis imperfecta|Ehlers-danlos syndrome, arthrochalasia type, 2|Ehlers-Danlos syndrome, classic type, 1|Osteogenesis imperfecta type I

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.