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rs1805165

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1805165(G;T)
Make rs1805165(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position88575373
GeneAC104134.2, EIF2AK3
is asnp
is mentioned by
dbSNPrs1805165
ebirs1805165
HLIrs1805165
Exacrs1805165
Varsomers1805165
Maprs1805165
PheGenIrs1805165
hapmaprs1805165
1000 genomesrs1805165
hgdprs1805165
ensemblrs1805165
gopubmedrs1805165
geneviewrs1805165
scholarrs1805165
googlers1805165
pharmgkbrs1805165
gwascentralrs1805165
openSNPrs1805165
23andMers1805165
23andMe allrs1805165
SNP Nexus

SNPshotrs1805165
SNPdbers1805165
MSV3drs1805165
GWAS Ctlgrs1805165
GMAF0.2879
Max Magnitude0
? (G;G) (G;T) (T;T) 28


Venter snp
Source plos
Gene EIF2AK3
allele A
frequency 0.267
sift TOLERATED
HuRef 1103658157121
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


GET Evidence
EIF2AK3-A704S
aa_change Ala704Ser
aa_change_short A704S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.802194
summary



Progressive Supranuclear Palsy


ClinVar
Risk rs1805165(T;T)
Alt rs1805165(T;T)
Reference rs1805165(G;G)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene LOC101928371 EIF2AK3
CLNDBN not specified
Reversed 1
HGVS NC_000002.11:g.88874891C>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000116968.2,