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rs397514648

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514648(A;A)
Make rs397514648(A;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position75003365
GeneEIF2B2
is asnp
is mentioned by
dbSNPrs397514648
ebirs397514648
HLIrs397514648
Exacrs397514648
Varsomers397514648
Maprs397514648
PheGenIrs397514648
hapmaprs397514648
1000 genomesrs397514648
hgdprs397514648
ensemblrs397514648
gopubmedrs397514648
geneviewrs397514648
scholarrs397514648
googlers397514648
pharmgkbrs397514648
gwascentralrs397514648
openSNPrs397514648
23andMers397514648
23andMe allrs397514648
SNP Nexus

SNPshotrs397514648
SNPdbers397514648
MSV3drs397514648
GWAS Ctlgrs397514648
Max Magnitude0
ClinVar
Risk rs397514648(A;A)
Alt rs397514648(A;A)
Reference rs397514648(T;T)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B2
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 0
HGVS NC_000014.8:g.75470068T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033202.3,