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rs863225052

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225052(G;G)
Make rs863225052(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123622674
GeneEIF2B1
is asnp
is mentioned by
dbSNPrs863225052
ebirs863225052
HLIrs863225052
Exacrs863225052
Varsomers863225052
Maprs863225052
PheGenIrs863225052
hapmaprs863225052
1000 genomesrs863225052
hgdprs863225052
ensemblrs863225052
gopubmedrs863225052
geneviewrs863225052
scholarrs863225052
googlers863225052
pharmgkbrs863225052
gwascentralrs863225052
openSNPrs863225052
23andMers863225052
23andMe allrs863225052
SNP Nexus

SNPshotrs863225052
SNPdbers863225052
MSV3drs863225052
GWAS Ctlgrs863225052
Max Magnitude0
ClinVar
Risk rs863225052(G;G)
Alt rs863225052(G;G)
Reference rs863225052(T;T)
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.124107221A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000201226.2,