Variant (rsID / SNP)

rs17645969

rs17645969 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPC6. Location: chromosome 13, position 93,879,390. Clinical significance in the table: Benign.

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Reference-table entries

GPC6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:93879390
Cytoband: 13q31.3
HGVS: NM_005708.5(GPC6):c.-320C>A
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive omodysplasia

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.