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rs113994044

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994044(C;C)
Make rs113994044(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184136619
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994044
ebirs113994044
HLIrs113994044
Exacrs113994044
Varsomers113994044
Maprs113994044
PheGenIrs113994044
hapmaprs113994044
1000 genomesrs113994044
hgdprs113994044
ensemblrs113994044
gopubmedrs113994044
geneviewrs113994044
scholarrs113994044
googlers113994044
pharmgkbrs113994044
gwascentralrs113994044
openSNPrs113994044
23andMers113994044
23andMe allrs113994044
SNP Nexus

SNPshotrs113994044
SNPdbers113994044
MSV3drs113994044
GWAS Ctlgrs113994044
Max Magnitude0
ClinVar
Risk rs113994044(C;C)
Alt rs113994044(C;C)
Reference rs113994044(T;T)
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.183854407T>C
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso