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rs1064651(C;C)

From SNPedia

possibly Gaucher's disease, but more likely a mis-oriented interpretation
Is agenotype
ofrs1064651
GeneGBA
Chromosome1
Position155,235,727
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(C;C) 8 possibly Gaucher's disease, but more likely a mis-oriented interpretation
(C;G) 3 carrier of Gaucher disease allele
(G;G) 0 common/normal

This genotype technically represents carrying two copies of the D409H mutation in the GBA gene, and thus most likely a form of Gaucher's disease. However, errors in interpretation for C/G transversion mutatations occur far more frequently than Gaucher's disease does, so this is likely to actually be an error.

Interpretation can be problematic due to orientation issues involving ambiguous flips