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rs113994048

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113994048(A;T)
Make rs113994048(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184136734
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994048
ebirs113994048
HLIrs113994048
Exacrs113994048
Varsomers113994048
Maprs113994048
PheGenIrs113994048
hapmaprs113994048
1000 genomesrs113994048
hgdprs113994048
ensemblrs113994048
gopubmedrs113994048
geneviewrs113994048
scholarrs113994048
googlers113994048
pharmgkbrs113994048
gwascentralrs113994048
openSNPrs113994048
23andMers113994048
23andMe allrs113994048
SNP Nexus

SNPshotrs113994048
SNPdbers113994048
MSV3drs113994048
GWAS Ctlgrs113994048
Max Magnitude0
ClinVar
Risk rs113994048(T;T)
Alt rs113994048(T;T)
Reference rs113994048(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.183854522A>T
CLNSRC
CLNACC RCV000175759.1,


OMIM603896
Desc
Variant
Relatedalso