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

rs843358

From SNPedia

Orientationminus
Stabilizedminus
Make rs843358(C;C)
Make rs843358(C;T)
Make rs843358(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184143455
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs843358
ebirs843358
HLIrs843358
Exacrs843358
Varsomers843358
Maprs843358
PheGenIrs843358
hapmaprs843358
1000 genomesrs843358
hgdprs843358
ensemblrs843358
gopubmedrs843358
geneviewrs843358
scholarrs843358
googlers843358
pharmgkbrs843358
gwascentralrs843358
openSNPrs843358
23andMers843358
23andMe allrs843358
SNP Nexus

SNPshotrs843358
SNPdbers843358
MSV3drs843358
GWAS Ctlgrs843358
GMAF0.3714
Max Magnitude
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene EIF2B5
allele G
frequency 0.292
sift TOLERATED
HuRef 1103656315782
Disease Association Defects in EIF2B5 are a cause of Cree leukoencephalopathy (CLE) (MIM:603896). CLE is a rapidly fatal infantile autosomal recessive leukodystrophy that is observed in the native Cree and Chippewayan indigenous population of northern Quebec and Manitoba.



Neighborrs28937596
Distance656


GET Evidence
EIF2B5-I587V
aa_change Ile587Val
aa_change_short I587V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.3285
summary



ClinVar
Risk rs843358(C;C)
Alt rs843358(C;C)
Reference rs843358(T;T)
Significance Other
Disease not specified
Variation info
Gene EIF2B5
CLNDBN not specified
Reversed 1
HGVS NC_000003.11:g.183861243A>G
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000080353.7,