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rs867529

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs867529(C;C)
Make rs867529(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position88613755
GeneEIF2AK3
is asnp
is mentioned by
dbSNPrs867529
ebirs867529
HLIrs867529
Exacrs867529
Varsomers867529
Maprs867529
PheGenIrs867529
hapmaprs867529
1000 genomesrs867529
hgdprs867529
ensemblrs867529
gopubmedrs867529
geneviewrs867529
scholarrs867529
googlers867529
pharmgkbrs867529
gwascentralrs867529
openSNPrs867529
23andMers867529
23andMe allrs867529
SNP Nexus

SNPshotrs867529
SNPdbers867529
MSV3drs867529
GWAS Ctlgrs867529
GMAF0.2883
Max Magnitude0
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene EIF2AK3
allele C
frequency 0.267
sift TOLERATED
HuRef 1103658157160
Disease Association Defects in EIF2AK3 are the cause of Wolcott-Rallison syndrome (WRS) (MIM:226980); also known as multiple epiphyseal dysplasia with early-onset diabetes mellitus. WRS is a rare autosomal recessive disorder, characterized by permanent neonatal or early infancy insulin-dependent diabetes and, at a later age, epiphyseal dysplasia, osteoporosis, growth retardation and other multisystem manifestations, such as hepatic and renal dysfunctions, mental retardation and cardiovascular abnormalities.



[PMID 22028037OA-icon.png] A functional haplotype in EIF2AK3, an ER stress sensor, is associated with lower bone mineral density


[PMID 17708757OA-icon.png] Genome bioinformatic analysis of nonsynonymous SNPs.


GET Evidence
EIF2AK3-S136C
aa_change Ser136Cys
aa_change_short S136C
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.197713
summary



[PMID 24985580] Common variants in PERK, JNK, BIP and XBP1 genes are associated with the risk of prediabetes or diabetes-related phenotypes in a Chinese population


ClinVar
Risk rs867529(C;C)
Alt rs867529(C;C)
Reference rs867529(G;G)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene EIF2AK3
CLNDBN not specified
Reversed 0
HGVS NC_000002.11:g.88913273G>C
CLNSRC ClinVar University of Chicago
CLNACC RCV000116969.2,