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i5012578

From SNPedia

23andMe dataI5012578
23andMe searchI5012578
opensnpI5012578
Gene (via rs)SACS
iGeno Mag Summary
(D;D) 6 neurodegenerative disorder (ARSACS)
(D;I) 4 carrier of a neurodegenerative disorder (ARSACS) mutation
(I;I) 0

aliasrs281865117
Rs_StabilizedOrientationminus
RsGeno Mag Summary
(-;-) 6 neurodegenerative disorder (ARSACS)
(-;T) 4 carrier of a neurodegenerative disorder (ARSACS) mutation
(T;T) 0 common in clinvar

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder first described in French-Canadian individuals from the Charlevoix and Saguenay-Lac-St-Jean regions of northeastern Quebec. Symptoms begin in early childhood and typically involve muscle overactivity and lack of muscle coordination, resulting in difficulty walking, moving the limbs, and speaking.

https://www.23andme.com/you/journal/arsacs/overview/

rs281865117