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i4000446

From SNPedia
23andMe dataI4000446
23andMe searchI4000446
opensnpI4000446
Gene (via rs)TOR1A
GeneTOR1A
Chromosome9
Position132576344
iGeno Mag Summary
(D;D) 7 Torsion dystonia
(D;I) 6 torsion dystonia
(I;I) 0 common/normal

aliasrs80358233
Rs_StabilizedOrientationminus
RsGeno Mag Summary
(-;-) 7 Torsion dystonia
(-;GAG) 7 Torsion dystonia
(GAG;GAG) 0 common in clinvar

23andMe tests for one mutation that causes torsion dystonia: i4000446, also known as deltaE302 (the risk genotype is a deletion)

The rest of the world knows this SNP as rs80358233; for more information, see rs80358233.