Variant (rsID / SNP)

rs2073574

rs2073574 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASAH1. Location: chromosome 8, position 17,921,921. Clinical significance in the table: Benign.

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Reference-table entries

ASAH1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:17921921
Cytoband: 8p22
HGVS: NM_177924.5(ASAH1):c.457+45A>G
Allele change: Silent

Associated conditions / phenotypes

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|Farber lipogranulomatosis

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.