Variant (rsID / SNP)

rs12686426

rs12686426 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A1. Location: chromosome 9, position 137,642,577. Clinical significance in the table: Benign.

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Reference-table entries

COL5A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:137642577
Cytoband: 9q34.3
HGVS: NM_000093.5(COL5A1):c.1570-59T>C
Allele change: Silent

Associated conditions / phenotypes

Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type, 1|FIBROMUSCULAR DYSPLASIA, MULTIFOCAL

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.