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rs387906315(G;G)

From SNPedia

Gaucher disease
Is agenotype
ofrs387906315
GeneGBA
Chromosome1
Position155,210,451
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 2 unaffected carrier of Gaucher disease variant
(G;G) 8 Gaucher disease

Known as the 84GG GBA mutation, this is a causal genotype for Gaucher's disease.