Variant: rs121908310 

    present in Gene: GBA
    present in Chromosome: 1
    Position on Chromosome: 155235760
    Alleles of this Variant: C/A;G

rs121908310 in GBA gene and GAUCHER DISEASE, PERINATAL LETHAL PMID 11933202 2002 The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

PMID 10352942 1999 Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

rs121908310 in GBA gene and Gaucher Disease, Type 3 (disorder) PMID 8780099 1996 Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.

PMID 11933202 2002 The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

PMID 24022302 2014 Functional analysis of 11 novel GBA alleles.