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rs2971410

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2971410(C;T)
Make rs2971410(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184137983
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs2971410
ebirs2971410
HLIrs2971410
Exacrs2971410
Varsomers2971410
Maprs2971410
PheGenIrs2971410
hapmaprs2971410
1000 genomesrs2971410
hgdprs2971410
ensemblrs2971410
gopubmedrs2971410
geneviewrs2971410
scholarrs2971410
googlers2971410
pharmgkbrs2971410
gwascentralrs2971410
openSNPrs2971410
23andMers2971410
23andMe allrs2971410
SNP Nexus

SNPshotrs2971410
SNPdbers2971410
MSV3drs2971410
GWAS Ctlgrs2971410
Max Magnitude0
? (C;C) (C;T) (T;T) 28
ClinVar
Risk rs2971410(T;T)
Alt rs2971410(T;T)
Reference rs2971410(C;C)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B5
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 1
HGVS NC_000003.11:g.183855771G>A
CLNSRC
CLNACC