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rs113994072

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113994072(A;G)
Make rs113994072(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184140602
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994072
ebirs113994072
HLIrs113994072
Exacrs113994072
Varsomers113994072
Maprs113994072
PheGenIrs113994072
hapmaprs113994072
1000 genomesrs113994072
hgdprs113994072
ensemblrs113994072
gopubmedrs113994072
geneviewrs113994072
scholarrs113994072
googlers113994072
pharmgkbrs113994072
gwascentralrs113994072
openSNPrs113994072
23andMers113994072
23andMe allrs113994072
SNP Nexus

SNPshotrs113994072
SNPdbers113994072
MSV3drs113994072
GWAS Ctlgrs113994072
Max Magnitude0
ClinVar
Risk rs113994072(G;G)
Alt rs113994072(G;G)
Reference rs113994072(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.183858390A>G
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso