Gene: GLA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.010 GeneticVariation BEFREE The clinical significance of the c.427G>A (p.A143T) variant in GLA is a topic of debate within the lysosomal storage disease community. 28799081

2018
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.010 GeneticVariation BEFREE Certain acid glycosidase variants that have been described in association with late-onset LSDs and which are known to have variable residual plasma and leukocyte enzyme activity in patients appear to show intermediate to low enzyme activity (p.N215S and p.Q279E α-Gal A respectively) in the over-expression system. 21972175

2012
dbSNP: rs28935485
rs28935485
GLA ; RPL36A-HNRNPH2
0.010 GeneticVariation BEFREE Certain acid glycosidase variants that have been described in association with late-onset LSDs and which are known to have variable residual plasma and leukocyte enzyme activity in patients appear to show intermediate to low enzyme activity (p.N215S and p.Q279E α-Gal A respectively) in the over-expression system. 21972175

2012