Variant: rs75822236 

    present in Gene: GBA
    present in Chromosome: 1
    Position on Chromosome: 155235002
    Alleles of this Variant: C/T

rs75822236 in GBA gene and Gaucher Disease PMID 8432537 1993 Identification of six new Gaucher disease mutations.

PMID 16293621 2006 Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.

rs75822236 in GBA gene and Gaucher Disease, Type 1 PMID 12972024 2004 The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.

PMID 8213821 1993 Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients.

PMID 9240741 1996 Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 16293621 2006 Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.

PMID 23699752 2013 Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations.

PMID 23588557 2013 A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

PMID 7916532 1994 DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.

PMID 27735925 2017 Most children with the p.N409S/p.N409S and p.N409S/p.R535H GD1 genotypes have minimal disease manifestations and progression during childhood and can be monitored using limited assessments.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 8432537 1993 Identification of six new Gaucher disease mutations.

rs75822236 in GBA gene and Intracranial Aneurysm PMID 30823506 2019 Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population.