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rs863225049

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225049(C;G)
Make rs863225049(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123621841
GeneEIF2B1
is asnp
is mentioned by
dbSNPrs863225049
ebirs863225049
HLIrs863225049
Exacrs863225049
Varsomers863225049
Maprs863225049
PheGenIrs863225049
hapmaprs863225049
1000 genomesrs863225049
hgdprs863225049
ensemblrs863225049
gopubmedrs863225049
geneviewrs863225049
scholarrs863225049
googlers863225049
pharmgkbrs863225049
gwascentralrs863225049
openSNPrs863225049
23andMers863225049
23andMe allrs863225049
SNP Nexus

SNPshotrs863225049
SNPdbers863225049
MSV3drs863225049
GWAS Ctlgrs863225049
Max Magnitude0
ClinVar
Risk rs863225049(G;G)
Alt rs863225049(G;G)
Reference rs863225049(C;C)
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.124106388G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000201220.3,