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rs113994064

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994064(A;A)
Make rs113994064(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184140518
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994064
ebirs113994064
HLIrs113994064
Exacrs113994064
Varsomers113994064
Maprs113994064
PheGenIrs113994064
hapmaprs113994064
1000 genomesrs113994064
hgdprs113994064
ensemblrs113994064
gopubmedrs113994064
geneviewrs113994064
scholarrs113994064
googlers113994064
pharmgkbrs113994064
gwascentralrs113994064
openSNPrs113994064
23andMers113994064
23andMe allrs113994064
SNP Nexus

SNPshotrs113994064
SNPdbers113994064
MSV3drs113994064
GWAS Ctlgrs113994064
Max Magnitude0
OMIM603945
Desc
Variant0009
Relatedalso
ClinVar
Risk rs113994064(A;A)
Alt rs113994064(A;A)
Reference rs113994064(G;G)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B5
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 0
HGVS NC_000003.11:g.183858306G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006314.3,


[PMID 17646634] Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.