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rs2230288

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 1 Homozygous for E326K variant of GBA gene
(A;G) 0.5 E326K variant in GBA gene
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome1
Position155206167
GeneGBA
is asnp
is mentioned by
dbSNPrs2230288
ebirs2230288
HLIrs2230288
Exacrs2230288
Varsomers2230288
Maprs2230288
PheGenIrs2230288
hapmaprs2230288
1000 genomesrs2230288
hgdprs2230288
ensemblrs2230288
gopubmedrs2230288
geneviewrs2230288
scholarrs2230288
googlers2230288
pharmgkbrs2230288
gwascentralrs2230288
openSNPrs2230288
23andMers2230288
23andMe allrs2230288
SNP Nexus

SNPshotrs2230288
SNPdbers2230288
MSV3drs2230288
GWAS Ctlgrs2230288
GMAF0.008724
Max Magnitude1
? (A;A) (A;G) (G;G) 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]

A news item from 2016 links rs2230288 to increased risk for rapid eye movement sleep behavior disorder (RBD), which often precedes synucleinopathies such as Parkinson's disease. Note that this research is not published as yet.

Venter snp
Source plos
Gene GBA
allele T
frequency 0.017
sift TOLERATED
HuRef 1103675229847
Disease Association 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.



Neighborrs1064651
Distance649
OMIM606463
Desc
Variant0011
Relatedalso


ClinVar
Risk rs2230288(A;A)
Alt rs2230288(A;A)
Reference rs2230288(G;G)
Significance Pathogenic
Disease Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155206167C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004538.4, RCV000180537.1,