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rs397514647

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514647(A;A)
Make rs397514647(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position44981089
GeneEIF2B3
is asnp
is mentioned by
dbSNPrs397514647
ebirs397514647
HLIrs397514647
Exacrs397514647
Varsomers397514647
Maprs397514647
PheGenIrs397514647
hapmaprs397514647
1000 genomesrs397514647
hgdprs397514647
ensemblrs397514647
gopubmedrs397514647
geneviewrs397514647
scholarrs397514647
googlers397514647
pharmgkbrs397514647
gwascentralrs397514647
openSNPrs397514647
23andMers397514647
23andMe allrs397514647
SNP Nexus

SNPshotrs397514647
SNPdbers397514647
MSV3drs397514647
GWAS Ctlgrs397514647
Max Magnitude0
ClinVar
Risk rs397514647(A;A)
Alt rs397514647(A;A)
Reference rs397514647(T;T)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B3
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 1
HGVS NC_000001.10:g.45446761A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033201.3,