Variant (rsID / SNP)

rs13691

rs13691 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C9ORF72, C9orf72. Location: chromosome 9, position 27,546,890. Clinical significance in the table: Benign.

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Reference-table entries

C9ORF72Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:27546890
Cytoband: 9p21.2
HGVS: NM_018325.5(C9orf72):c.*1344C>T
Allele change: Silent

Associated conditions / phenotypes

Frontotemporal dementia and/or amyotrophic lateral sclerosis 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.