Variant (rsID / SNP)

rs794727500

rs794727500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DAG1. Location: chromosome 3, position 49,568,442. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DAG1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:49568442
Cytoband: 3p21.31
HGVS: NM_004393.6(DAG1):c.498G>A (p.Ser166=)
Allele change: Synonymous_S166S

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.