present in Gene: CLN8
present in Chromosome: 8
Position on Chromosome: 1798784
Alleles of this Variant: A/G
rs11986414 in
CLN8 gene and
Gaucher Disease
PMID 22388998 2012 Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.