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rs863225048

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225048(G;T)
Make rs863225048(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123626429
GeneEIF2B1
is asnp
is mentioned by
dbSNPrs863225048
ebirs863225048
HLIrs863225048
Exacrs863225048
Varsomers863225048
Maprs863225048
PheGenIrs863225048
hapmaprs863225048
1000 genomesrs863225048
hgdprs863225048
ensemblrs863225048
gopubmedrs863225048
geneviewrs863225048
scholarrs863225048
googlers863225048
pharmgkbrs863225048
gwascentralrs863225048
openSNPrs863225048
23andMers863225048
23andMe allrs863225048
SNP Nexus

SNPshotrs863225048
SNPdbers863225048
MSV3drs863225048
GWAS Ctlgrs863225048
Max Magnitude0
ClinVar
Risk rs863225048(T;T)
Alt rs863225048(T;T)
Reference rs863225048(G;G)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B1
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 1
HGVS NC_000012.11:g.124110976C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000201228.2,