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rs1801968

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1801968(C;C)
Make rs1801968(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position129818622
GeneTOR1A
is asnp
is mentioned by
dbSNPrs1801968
ebirs1801968
HLIrs1801968
Exacrs1801968
Varsomers1801968
Maprs1801968
PheGenIrs1801968
hapmaprs1801968
1000 genomesrs1801968
hgdprs1801968
ensemblrs1801968
gopubmedrs1801968
geneviewrs1801968
scholarrs1801968
googlers1801968
pharmgkbrs1801968
gwascentralrs1801968
openSNPrs1801968
23andMers1801968
23andMe allrs1801968
SNP Nexus

SNPshotrs1801968
SNPdbers1801968
MSV3drs1801968
GWAS Ctlgrs1801968
GMAF0.07759
Max Magnitude0
? (C;C) (C;G) (G;G) 28
OMIM605204
DescTORSIN-A; DYT1
Variant
Relatedalso
OMIM605204
Desc
Variant0003
Relatedalso


[PMID 22054283] Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort


ClinVar
Risk rs1801968(C;C)
Alt rs1801968(C;C)
Reference rs1801968(G;G)
Significance Other
Disease Dystonia 1 Dystonia 1 not specified
Variation info
Gene TOR1A
CLNDBN Dystonia 1, torsion, modifier of Dystonia 1 not specified
Reversed 1
HGVS NC_000009.11:g.132580901C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005490.4, RCV000020122.1, RCV000178043.1,



[PMID 17503336OA-icon.png] Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.


[PMID 19260107] The p.Asp216His TOR1A allele effect is not found in the French population.


[PMID 20669276OA-icon.png] Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.


[PMID 9288096] The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.


[PMID 11523564] Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.


[PMID 18519876] Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism.


GET Evidence
TOR1A-D216H
aa_change Asp216His
aa_change_short D216H
impact protective
qualified_impact Low clinical importance, Likely protective
overall_frequency 0.102993
summary This SNP has been shown to be benign and play a protective role against Dystonia.



[PMID 23405979] Analysis of D216H polymorphism in Argentinean patients with primary dystonia.


[PMID 23460578] Is TOR1A a risk factor in adult-onset primary torsion dystonia?