{{Rsnum
|rsid=1801968
|Gene=TOR1A
|Chromosome=9
|position=129818622
|Orientation=minus
|GMAF=0.07759
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=TOR1A
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 1.8 | 28.3 | 69.9
| HCB | 0.0 | 10.9 | 89.1
| JPT | 0.0 | 6.2 | 93.8
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 5.3 | 94.7
| CHB | 0.0 | 10.9 | 89.1
| CHD | 0.0 | 18.3 | 81.7
| GIH | 3.0 | 33.7 | 63.4
| LWK | 0.0 | 0.0 | 0.0
| MEX | 1.8 | 10.5 | 87.7
| MKK | 0.0 | 9.0 | 91.0
| TSI | 2.9 | 28.4 | 68.6
| HapMapRevision=28
}}

{{omim
|id=605204
|desc=TORSIN-A; DYT1
|rsnum=1801968
}}

{{omim
|id=605204
|rsnum=1801968
|variant=0003
}}

{{PMID Auto
|PMID=22054283
|Title=Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort
}}

{{ClinVar
|rsid=1801968
|Reversed=1
|FwdREF=G
|FwdALT=C
|REF=C
|ALT=G
|RSPOS=132580901
|CHROM=9
|GMAF=0.0774
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x05016800000015051f110100
|GENEINFO=TOR1A:1861
|GENE_NAME=TOR1A
|GENE_ID=1861
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.132580901C>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1492; 605204.0003
|CLNSIG=5
|CLNCUI=C1851945
|CLNDBN=Dystonia 1, torsion, modifier of; Dystonia 1
|Disease=Dystonia 1; Dystonia 1
|CLNACC=RCV000005490.1; RCV000020122.1
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9224; 0.07759
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1492:C1851945:128100:256
|COMMON=1
}}

{{PMID Auto
|PMID=17503336
|Title=Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.
|OA=1
}}

{{PMID Auto
|PMID=19260107
|Title=The p.Asp216His TOR1A allele effect is not found in the French population.
}}

{{PMID Auto
|PMID=20669276
|Title=Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.
|OA=1
}}

{{PMID Auto
|PMID=9288096
|Title=The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
}}

{{PMID Auto
|PMID=11523564
|Title=Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.
}}

{{PMID Auto
|PMID=18519876
|Title=Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism.
}}

{{GET Evidence
|gene=TOR1A
|aa_change=Asp216His
|aa_change_short=D216H
|impact=protective
|qualified_impact=Low clinical importance, Likely protective
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1801968
|overall_frequency_n=1108
|overall_frequency_d=10758
|overall_frequency=0.102993
|n_genomes=9
|n_genomes_annotated=0
|n_haplomes=10
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|qualityscore_severity=1
|qualitycomment_severity=Y
|gene_in_genetests=Y
|pph2_score=0.205
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=3
|autoscore=3
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=1
|summary_short=This SNP has been shown to be benign and play a protective role against Dystonia.  
}}

{{PMID Auto
|PMID=23405979
|Title=Analysis of D216H polymorphism in Argentinean patients with primary dystonia.
}}

{{PMID Auto
|PMID=23460578
|Title=Is TOR1A a risk factor in adult-onset primary torsion dystonia?
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}