Have questions? Visit https://www.reddit.com/r/SNPedia

rs397514646

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514646(C;C)
Make rs397514646(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184140122
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs397514646
ebirs397514646
HLIrs397514646
Exacrs397514646
Varsomers397514646
Maprs397514646
PheGenIrs397514646
hapmaprs397514646
1000 genomesrs397514646
hgdprs397514646
ensemblrs397514646
gopubmedrs397514646
geneviewrs397514646
scholarrs397514646
googlers397514646
pharmgkbrs397514646
gwascentralrs397514646
openSNPrs397514646
23andMers397514646
23andMe allrs397514646
SNP Nexus

SNPshotrs397514646
SNPdbers397514646
MSV3drs397514646
GWAS Ctlgrs397514646
Max Magnitude0
ClinVar
Risk rs397514646(A,C,T;A,C,T)
Alt rs397514646(A,C,T;A,C,T)
Reference rs397514646(G;G)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B5
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 0
HGVS NC_000003.11:g.183857910G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033200.4,