Have questions? Visit https://www.reddit.com/r/SNPedia

rs113994036

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994036(A;A)
Make rs113994036(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position27366778
GeneEIF2B4
is asnp
is mentioned by
dbSNPrs113994036
ebirs113994036
HLIrs113994036
Exacrs113994036
Varsomers113994036
Maprs113994036
PheGenIrs113994036
hapmaprs113994036
1000 genomesrs113994036
hgdprs113994036
ensemblrs113994036
gopubmedrs113994036
geneviewrs113994036
scholarrs113994036
googlers113994036
pharmgkbrs113994036
gwascentralrs113994036
openSNPrs113994036
23andMers113994036
23andMe allrs113994036
SNP Nexus

SNPshotrs113994036
SNPdbers113994036
MSV3drs113994036
GWAS Ctlgrs113994036
Max Magnitude0
ClinVar
Risk rs113994036(A;A)
Alt rs113994036(A;A)
Reference rs113994036(C;C)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B4
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 1
HGVS NC_000002.11:g.27589645G>T
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso