{{Rsnum
|rsid=104886460
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Chromosome=1
|Orientation=minus
|Gene=GBA
|position=155210420
|Assembly=GRCh37.p2
|GenomeBuild=37.2
|dbSNPBuild=134
}}[[rs104886460]] represents a rare variation in the acid beta-glucocerebrosidase ([[GBA]]) gene. [[Gaucher's disease]] is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase, and over 200 mutations have been described in the GBA gene, many of which lead to Gaucher Type I or Type II disease.

The mutation encoded by [[rs104886460]] is one of the top 5 or so Gaucher-related variations found in [[Ashkenazi Jews]], and is known as "IVS2+1G-A". It is most commonly associated with Gaucher Type I disease but has also been seen associated with Type II disease, apparently depending on the nature of the "other" GBA mutation found in an individual (since it's a recessive condition requiring both alleles to be affected).

See also: OMIM [http://www.ncbi.nlm.nih.gov/omim/606463?db=omim&dopt=Detailed#606463Variants0015 606463.0015]
{{omim
|id=606463
|rsnum=104886460
|variant=0015
}}{{ClinVar
|ALT=A,T
|CHROM=1
|CLNACC=RCV000079332.1
|CLNALLE=2
|CLNDBN=not provided
|CLNHGVS=NC_000001.11:g.155240629C>T
|CLNSIG=5
|Disease=not provided
|FwdALT=A,T
|FwdREF=G
|GENEINFO=GBA:2629
|GENE_ID=2629
|GENE_NAME=GBA
|REF=C
|RSPOS=155240629
|Reversed=1
|SAO=1
|SSR=0
|Tags=RV;PM;DSS;INT;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060180005000002110100
|WGT=1
|dbSNPBuildID=132
|rsid=104886460
|CLNORIGIN=1
|CLNSRC=ClinVar
|CLNSRCID=NM_001005741.2:c.115+1G>A; NM_001171811.1:c.-146-552G>A
}}