{{Rsnum
|rsid=1805165
|Gene=EIF2AK3
|Chromosome=2
|position=88575373
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=T
|GMAF=0.2879
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=AC104134.2,EIF2AK3
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 8.0 | 38.9 | 53.1
| HCB | 20.5 | 53.0 | 26.5
| JPT | 18.0 | 44.1 | 37.8
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 7.0 | 93.0
| CHB | 20.5 | 53.0 | 26.5
| CHD | 25.2 | 41.1 | 33.6
| GIH | 16.8 | 40.6 | 42.6
| LWK | 0.0 | 4.5 | 95.5
| MEX | 7.1 | 50.0 | 42.9
| MKK | 0.6 | 21.2 | 78.2
| TSI | 6.9 | 36.3 | 56.9
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1805165
|allele=A
|frequency=0.267
|uid=1103658157121
|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=Ala704Ser
|aa_change_short=A704S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1805165
|overall_frequency_n=8630
|overall_frequency_d=10758
|overall_frequency=0.802194
|n_genomes=52
|n_genomes_annotated=0
|n_haplomes=89
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-1
|autoscore=2
|n_web_uneval=1
}}

[[Progressive Supranuclear Palsy]]

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