Variant (rsID / SNP)

rs1801968

rs1801968 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TOR1A. Location: chromosome 9, position 132,580,901. Clinical significance in the table: Benign.

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Reference-table entries

TOR1ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:132580901
Cytoband: 9q34.11
HGVS: NM_000113.3(TOR1A):c.646G>C (p.Asp216His)
Allele change: Missense_D216H

Associated conditions / phenotypes

Dystonia 1, torsion, modifier of|Early-onset generalized limb-onset dystonia|Dystonic disorder

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.