rs867529

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs867529(C;C)

Make rs867529(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

88613755

Gene

EIF2AK3

is a	snp
is	mentioned by
dbSNP	rs867529
dbSNP (classic)	rs867529
ClinGen	rs867529
ebi	rs867529
HLI	rs867529
Exac	rs867529
Gnomad	rs867529
Varsome	rs867529
LitVar	rs867529
Map	rs867529
PheGenI	rs867529
Biobank	rs867529
1000 genomes	rs867529
hgdp	rs867529
ensembl	rs867529
geneview	rs867529
scholar	rs867529
google	rs867529
pharmgkb	rs867529
gwascentral	rs867529
openSNP	rs867529
23andMe	rs867529
SNPshot	rs867529
SNPdbe	rs867529
MSV3d	rs867529
GWAS Ctlg	rs867529

GMAF

0.2883

Max Magnitude

0

?

(C;C) (C;G) (G;G)

28

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

[PMID 17708757 ] Genome bioinformatic analysis of nonsynonymous SNPs.

[PMID 24985580] Common variants in PERK, JNK, BIP and XBP1 genes are associated with the risk of prediabetes or diabetes-related phenotypes in a Chinese population

ClinVar
Risk	rs867529(C;C)
Alt	rs867529(C;C)
Reference	Rs867529(G;G)
Significance	Probable-non-pathogenic
Disease	not specified Wolcott-Rallison dysplasia
Variation	info
Gene	EIF2AK3
CLNDBN	not specified Wolcott-Rallison dysplasia
Reversed	0
HGVS	NC_000002.11:g.88913273G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000116969.2, RCV000322169.1,