{{Rsnum
|rsid=2230288
|Gene=GBA
|Chromosome=1
|position=155206167
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.008724
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=GBA
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 4.4 | 95.6
| HCB | 0.0 | 0.7 | 99.3
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.7 | 99.3
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 2.9 | 97.1
| HapMapRevision=28
}}

[[rs2230288]], also known as E326K or E365K, is a variation in the [[GBA]] gene which appears to be well tolerated; in other words, it is not associated with Gaucher disease.

However, there is some evidence suggesting it is not a neutral polymorphism; instead, it appears to be a "modifier" variant.{{PMID|11903352}}

{{Venter SNP
|rsid=2230288
|allele=T
|frequency=0.017
|uid=1103675229847
|type=heterozygous_SNP
|hugo=GBA
|ensembl gene=ENSG00000177628
|ensembl transcript=ENST00000368372
|sift=TOLERATED
|disease=Defects in GBA are the cause of perinatal lethal Gaucher disease (MIM:608013). It is a distinct form of type 2 Gaucher disease, characterized by fetal onset. In most cases, nonimmune hydrops fetalis is present, it is associated with hepatosplenomegaly, ichthyosis, arthrogryposis, and facial dysmorphism. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism in 35 to 43% of cases.
}}

{{ neighbor
| rsid = 1064651
| distance = 649
}}

{{omim
|id=606463
|rsnum=2230288
|variant=0011
}}

{{ClinVar
|rsid=2230288
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=155236376
|CHROM=1
|GMAF=0.0087
|dbSNPBuildID=98
|SSR=0
|SAO=1
|VP=0x050360000e05040517110110
|GENEINFO=GBA:2629
|GENE_NAME=GBA
|GENE_ID=2629
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.155236376C>T
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001005741.2:c.1093G>A; 606463.0011
|CLNSIG=5
|CLNCUI=C1961835; C1961835
|CLNDBN=Gaucher's disease, type 1
|Disease=Gaucher's disease
|CLNACC=RCV000004538.3
|Tags=RV;PM;S3D;SLO;NSM;NSN;REF;ASP;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM;NOC
|CAF=0.9913; 0.008724
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1269:C1961835:230800:ORPHA355:ORPHA77259:62201009
|COMMON=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}