Variant (rsID / SNP)

rs1801182

rs1801182 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A2. Location: chromosome 7, position 94,027,699. 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: 7:94027699
Cytoband: 7q21.3
HGVS: NM_000089.4(COL1A2):c.87T>C (p.Thr29=)
Allele change: Synonymous_T29T

Associated conditions / phenotypes

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

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.