{{Rsnum
|rsid=13045
|Gene=EIF2AK3
|Chromosome=2
|position=88595605
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.3471
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=EIF2AK3
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 13.6 | 41.8 | 44.5
| HCB | 24.8 | 54.1 | 21.1
| JPT | 22.1 | 46.0 | 31.9
| YRI | 0.0 | 19.9 | 80.1
| ASW | 0.0 | 0.0 | 0.0
| CHB | 24.8 | 54.1 | 21.1
| CHD | 31.2 | 42.2 | 26.6
| GIH | 23.2 | 44.4 | 32.3
| LWK | 1.8 | 20.2 | 78.0
| MEX | 16.4 | 54.5 | 29.1
| MKK | 3.9 | 30.3 | 65.8
| TSI | 7.9 | 41.6 | 50.5
| HapMapRevision=28
}}{{Venter SNP
|rsid=13045
|allele=C
|frequency=0.3
|uid=1103658157147
|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
}}

{{GET Evidence
|gene=EIF2AK3
|aa_change=Gln166Arg
|aa_change_short=Q166R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs13045
|overall_frequency_n=7876
|overall_frequency_d=10758
|overall_frequency=0.732106
|n_genomes=51
|n_genomes_annotated=0
|n_haplomes=81
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|n_web_uneval=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}