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rs863225050

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225050(A;G)
Make rs863225050(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123630210
GeneEIF2B1
is asnp
is mentioned by
dbSNPrs863225050
ebirs863225050
HLIrs863225050
Exacrs863225050
Varsomers863225050
Maprs863225050
PheGenIrs863225050
hapmaprs863225050
1000 genomesrs863225050
hgdprs863225050
ensemblrs863225050
gopubmedrs863225050
geneviewrs863225050
scholarrs863225050
googlers863225050
pharmgkbrs863225050
gwascentralrs863225050
openSNPrs863225050
23andMers863225050
23andMe allrs863225050
SNP Nexus

SNPshotrs863225050
SNPdbers863225050
MSV3drs863225050
GWAS Ctlgrs863225050
Max Magnitude0
ClinVar
Risk rs863225050(G;G)
Alt rs863225050(G;G)
Reference rs863225050(A;A)
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.124114757T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000201227.2,