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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
GeneEIF2AK3, LOC101928371
is asnp
is mentioned by
dbSNPrs1805165
dbSNP (old)rs1805165
ClinGenrs1805165
ebirs1805165
HLIrs1805165
Exacrs1805165
Gnomadrs1805165
Varsomers1805165
LitVarrs1805165
Maprs1805165
PheGenIrs1805165
Biobankrs1805165
1000 genomesrs1805165
hgdprs1805165
ensemblrs1805165
gopubmedrs1805165
geneviewrs1805165
scholarrs1805165
googlers1805165
pharmgkbrs1805165
gwascentralrs1805165
openSNPrs1805165
23andMers1805165
23andMe allrs1805165
SNPshotrs1805165
SNPdbers1805165
MSV3drs1805165
GWAS Ctlgrs1805165
GMAF0.2879
Max Magnitude0
? (G;G) (G;T) (T;T) 28



[PMID 22028037OA-icon.png] A functional haplotype in EIF2AK3, an ER stress sensor, is associated with lower bone mineral density


Progressive Supranuclear Palsy


ClinVar
Risk rs1805165(T;T)
Alt rs1805165(T;T)
Reference Rs1805165(G;G)
Significance Probable-non-pathogenic
Disease not specified Wolcott-Rallison dysplasia
Variation info
Gene LOC101928371 EIF2AK3
CLNDBN not specified Wolcott-Rallison dysplasia
Reversed 1
HGVS NC_000002.11:g.88874891C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000116968.2, RCV000374096.1,