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rs238238

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0
Make rs238238(A;A)
Make rs238238(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position4953081
GeneENO3
is asnp
is mentioned by
dbSNPrs238238
ebirs238238
HLIrs238238
Exacrs238238
Varsomers238238
Maprs238238
PheGenIrs238238
hapmaprs238238
1000 genomesrs238238
hgdprs238238
ensemblrs238238
gopubmedrs238238
geneviewrs238238
scholarrs238238
googlers238238
pharmgkbrs238238
gwascentralrs238238
openSNPrs238238
23andMers238238
23andMe allrs238238
SNP Nexus

SNPshotrs238238
SNPdbers238238
MSV3drs238238
GWAS Ctlgrs238238
GMAF0.4004
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene ENO3
allele A
frequency 0.292
sift TOLERATED
HuRef 1103645267240
Disease Association Defects in ENO3 are the cause of muscle-specific enolase- beta deficiency (glycogenesis type XIII) (MIM:131370). It is a glycogen storage myopathy which results in exercise-induced myalgias, generalized muscle weakness and fatigability. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen-beta particles are detected in patients.



GET Evidence
ENO3-N71S
aa_change Asn71Ser
aa_change_short N71S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.669176
summary