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rs758746181

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs758746181(C;C)
Make rs758746181(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123621850
GeneEIF2B1
is asnp
is mentioned by
dbSNPrs758746181
ebirs758746181
HLIrs758746181
Exacrs758746181
Varsomers758746181
Maprs758746181
PheGenIrs758746181
hapmaprs758746181
1000 genomesrs758746181
hgdprs758746181
ensemblrs758746181
gopubmedrs758746181
geneviewrs758746181
scholarrs758746181
googlers758746181
pharmgkbrs758746181
gwascentralrs758746181
openSNPrs758746181
23andMers758746181
23andMe allrs758746181
SNP Nexus

SNPshotrs758746181
SNPdbers758746181
MSV3drs758746181
GWAS Ctlgrs758746181
Max Magnitude0
ClinVar
Risk rs758746181(C;C)
Alt rs758746181(C;C)
Reference rs758746181(T;T)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B1
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 0
HGVS NC_000012.11:g.124106397T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000201219.1,