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rs113994075

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113994075(A;G)
Make rs113994075(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184141928
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994075
ebirs113994075
HLIrs113994075
Exacrs113994075
Varsomers113994075
Maprs113994075
PheGenIrs113994075
hapmaprs113994075
1000 genomesrs113994075
hgdprs113994075
ensemblrs113994075
gopubmedrs113994075
geneviewrs113994075
scholarrs113994075
googlers113994075
pharmgkbrs113994075
gwascentralrs113994075
openSNPrs113994075
23andMers113994075
23andMe allrs113994075
SNP Nexus

SNPshotrs113994075
SNPdbers113994075
MSV3drs113994075
GWAS Ctlgrs113994075
Max Magnitude0
ClinVar
Risk rs113994075(G;G)
Alt rs113994075(G;G)
Reference rs113994075(A;A)
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.183859716A>G
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso