TOR1A D216H - GET-Evidence



(TOR1A Asp216His)

Short summary

This SNP has been shown to be benign and play a protective role against Dystonia.

Variant evidence
Computational 2

PolyPhen Score of .658 (possibly damaging); NBLOSUM100 score of 3;

Functional -
Case/Control 4

p<.01 that this snp plays a protective role against dystonia in European populations

See Kamm C et al. 2008 (18519876).

Familial -
Clinical importance
Severity 1


Treatability -
Penetrance 1

The incidence of Dystonia is rare (<1%), but the incidence is decreased by this SNP



Low clinical importance, Likely protective

(The "low clinical importance, likely" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • G @ chr9:132580901: 10.3% (1108/10758) in EVS
  • G @ chr9:131620721: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 10.3% (1108/10758)


Kamm C, Fischer H, Garavaglia B, Kullmann S, Sharma M, Schrader C, Grundmann K, Klein C, Borggraefe I, Lobsien E, Kupsch A, Nardocci N, Gasser T. Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism. Neurology. 2008 Jun 3;70(23):2261-2. PubMed PMID: 18519876.

This SNP has been shown to be benign and play a protective role against Dystonia.

Brüggemann N, Kock N, Lohmann K, König IR, Rakovic A, Hagenah J, Schmidt A, Ziegler A, Jabusch HC, Siebner H, Altenmüller E, Münchau A, Klein C. The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases? Neurology. 2009 Apr 21;72(16):1441-3. PubMed PMID: 19380705.


Sharma N, Franco RA Jr, Kuster JK, Mitchell AA, Fuchs T, Saunders-Pullman R, Raymond D, Brin MF, Blitzer A, Bressman SB, Ozelius LJ. Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia. Mov Disord. 2010 Oct 15;25(13):2183-7. PubMed PMID: 20669276; PubMed Central PMCID: PMC3095887.



hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr9:132580901


hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom G @ chr9:132580901


hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr9:132580901


hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom G @ chr9:132580901


hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr9:132580901



hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr9:132580901


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr9:132580901


hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr9:132580901


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr9:132580901


huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr9:132580901


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr9:132580901


huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr9:132580901


GS06994 - var-GS06994-1100-36-ASM
het G @ chr9:131620722


GS07357 - var-GS07357-1100-36-ASM
het G @ chr9:131620722


GS18558 - var-GS18558-1100-36-ASM
het G @ chr9:131620722


GS18942 - var-GS18942-1100-36-ASM
het G @ chr9:131620722


GS19648 - var-GS19648-1100-36-ASM
het G @ chr9:131620722


GS19735 - var-GS19735-1100-36-ASM
het G @ chr9:131620722


Other external references

  • rs1801968
  • Score: 0.205 (possibly damaging)

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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