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rs13045

From SNPedia

Orientationminus
Stabilizedminus
Make rs13045(A;A)
Make rs13045(A;G)
Make rs13045(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position88595605
GeneEIF2AK3
is asnp
is mentioned by
dbSNPrs13045
ebirs13045
HLIrs13045
Exacrs13045
Varsomers13045
Maprs13045
PheGenIrs13045
hapmaprs13045
1000 genomesrs13045
hgdprs13045
ensemblrs13045
gopubmedrs13045
geneviewrs13045
scholarrs13045
googlers13045
pharmgkbrs13045
gwascentralrs13045
openSNPrs13045
23andMers13045
23andMe allrs13045
SNP Nexus

SNPshotrs13045
SNPdbers13045
MSV3drs13045
GWAS Ctlgrs13045
GMAF0.3471
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene EIF2AK3
allele C
frequency 0.3
sift TOLERATED
HuRef 1103658157147
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-Q166R
aa_change Gln166Arg
aa_change_short Q166R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.732106
summary



ClinVar
Risk rs13045(G;G)
Alt rs13045(G;G)
Reference rs13045(A;A)
Significance Other
Disease not specified
Variation info
Gene EIF2AK3
CLNDBN not specified
Reversed 1
HGVS NC_000002.11:g.88895123T>C
CLNSRC ClinVar University of Chicago
CLNACC RCV000116970.3,