RS1064651 GBA
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What This Variant Does
"rs1064651, also known as Asp448His or D448H, is a SNP in exon 9 of the GBA gene on chromosome 1. As ...
Associated Conditions
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease perinatal lethal
Gaucher disease
7 conditions
Parkinson disease
late-onset
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease perinatal lethal
Gaucher disease
Population Frequencies
gnomAD ALL
0%