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rs113994012

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994012(G;T)
Make rs113994012(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position75005867
GeneEIF2B2
is asnp
is mentioned by
dbSNPrs113994012
ebirs113994012
HLIrs113994012
Exacrs113994012
Varsomers113994012
Maprs113994012
PheGenIrs113994012
hapmaprs113994012
1000 genomesrs113994012
hgdprs113994012
ensemblrs113994012
gopubmedrs113994012
geneviewrs113994012
scholarrs113994012
googlers113994012
pharmgkbrs113994012
gwascentralrs113994012
openSNPrs113994012
23andMers113994012
23andMe allrs113994012
SNP Nexus

SNPshotrs113994012
SNPdbers113994012
MSV3drs113994012
GWAS Ctlgrs113994012
Max Magnitude0
ClinVar
Risk rs113994012(C,T;C,T)
Alt rs113994012(C,T;C,T)
Reference rs113994012(G;G)
Significance Probable-Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B2
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 0
HGVS NC_000014.8:g.75472570G>T
CLNSRC
CLNACC RCV000190580.1,


OMIM603896
Desc
Variant
Relatedalso