Variant (rsID / SNP)

rs104894220

rs104894220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DRD2. Location: chromosome 11, position 113,287,657. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DRD2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:113287657
Cytoband: 11q23.2
HGVS: NM_000795.4(DRD2):c.460G>A (p.Val154Ile)
Allele change: Missense_V154I

Associated conditions / phenotypes

Myoclonic dystonia 11

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.