{{Rsnum
|rsid=867529
|Gene=EIF2AK3
|Chromosome=2
|position=88613755
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.2883
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=EIF2AK3
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 9.2 | 36.9 | 53.8
| HCB | 26.7 | 53.3 | 20.0
| JPT | 20.5 | 47.7 | 31.8
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 26.7 | 53.3 | 20.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=867529
|allele=C
|frequency=0.267
|uid=1103658157160
|type=heterozygous_SNP
|hugo=EIF2AK3
|ensembl gene=ENSG00000172071
|ensembl transcript=ENST00000303236
|sift=TOLERATED
|disease=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 Auto
|PMID=22028037
|Title=A functional haplotype in EIF2AK3, an ER stress sensor, is associated with lower bone mineral density
|OA=1
}}

{{PMID Auto
|PMID=17708757
|Title=Genome bioinformatic analysis of nonsynonymous SNPs.
|OA=1
}}

{{GET Evidence
|gene=EIF2AK3
|aa_change=Ser136Cys
|aa_change_short=S136C
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs867529
|overall_frequency_n=2127
|overall_frequency_d=10758
|overall_frequency=0.197713
|n_genomes=19
|n_genomes_annotated=0
|n_haplomes=23
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=3
|autoscore=2
|n_web_uneval=4
}}

{{PMID Auto
|PMID=24985580
|Title=Common variants in PERK, JNK, BIP and XBP1 genes are associated with the risk of prediabetes or diabetes-related phenotypes in a Chinese population
}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}