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rs113994052

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs113994052(-;-)
Make rs113994052(-;GT)
ReferenceGRCh38 38.1/141
Chromosome3
Position184137752
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994052
ebirs113994052
HLIrs113994052
Exacrs113994052
Varsomers113994052
Maprs113994052
PheGenIrs113994052
hapmaprs113994052
1000 genomesrs113994052
hgdprs113994052
ensemblrs113994052
gopubmedrs113994052
geneviewrs113994052
scholarrs113994052
googlers113994052
pharmgkbrs113994052
gwascentralrs113994052
openSNPrs113994052
23andMers113994052
23andMe allrs113994052
SNP Nexus

SNPshotrs113994052
SNPdbers113994052
MSV3drs113994052
GWAS Ctlgrs113994052
Max Magnitude0
ClinVar
Risk rs113994052(;)
Alt rs113994052(;)
Reference rs113994052(GT;GT)
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.183855540_183855541delGT
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso