Gene: GBA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747506979
rs747506979
GBA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853314
rs878853314
GBA
G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853315
rs878853315
GBA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1289324472
rs1289324472
GBA
0.010 GeneticVariation BEFREE At diagnosis, N370S homozygotes as compared to N370S compound heterozygotes had the following clinical characteristics: irreversible skeletal lesions 17% (34/198) for N370S homozygotes versus 26% (76/290) for N370S compound heterozygotes; anaemia 18% (59/327) versus 29% (145/494); thrombocytopenia 52% (170/327) versus 62% (281/453); hepatomegaly 44% (83/190) versus 72% (141/195); splenomegaly 73% (142/194) versus 91% (178/195); and osteopenia or osteoporosis 48.6% (34/70) versus 51% (25/49). 18979180

2008
dbSNP: rs76763715
rs76763715
GBA
0.010 GeneticVariation BEFREE At diagnosis, N370S homozygotes as compared to N370S compound heterozygotes had the following clinical characteristics: irreversible skeletal lesions 17% (34/198) for N370S homozygotes versus 26% (76/290) for N370S compound heterozygotes; anaemia 18% (59/327) versus 29% (145/494); thrombocytopenia 52% (170/327) versus 62% (281/453); hepatomegaly 44% (83/190) versus 72% (141/195); splenomegaly 73% (142/194) versus 91% (178/195); and osteopenia or osteoporosis 48.6% (34/70) versus 51% (25/49). 18979180

2008