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rs267606688(A;C)

From SNPedia

Carrier of a Brown-Vialetto-Van Laere syndrome mutation
Is agenotype
ofrs267606688
GeneSLC52A3
Chromosome20
Position765,693
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 8 Brown-Vialetto-Van Laere Syndrome
(A;C) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(C;C) 0 common in clinvar

Unaffected carrier in absence of second mutation; see discussion at Brown-Vialetto-Van laere syndrome.