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This SNP has been shown to be benign and play a protective role against Dystonia.
PolyPhen Score of .658 (possibly damaging); NBLOSUM100 score of 3;
p<.01 that this snp plays a protective role against dystonia in European populations
See Kamm C et al. 2008 (18519876).
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.)
Summary of published research, and additional commentary
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 article contains a study indicating that this SNP may play a protective role against Dystonia
hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom G @ chr9:132580901
huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr9:132580901
Added in this revision:
GS07357 - var-GS07357-1100-36-ASM
het G @ chr9:131620722