rs121908569

Orientation

minus

Stabilized

minus

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

Make rs121908569(A;A)

Make rs121908569(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

88583430

Gene

EIF2AK3

is a	snp
is	mentioned by
dbSNP	rs121908569
dbSNP (classic)	rs121908569
ClinGen	rs121908569
ebi	rs121908569
HLI	rs121908569
Exac	rs121908569
Gnomad	rs121908569
Varsome	rs121908569
LitVar	rs121908569
Map	rs121908569
PheGenI	rs121908569
Biobank	rs121908569
1000 genomes	rs121908569
hgdp	rs121908569
ensembl	rs121908569
geneview	rs121908569
scholar	rs121908569
google	rs121908569
pharmgkb	rs121908569
gwascentral	rs121908569
openSNP	rs121908569
23andMe	rs121908569
SNPshot	rs121908569
SNPdbe	rs121908569
MSV3d	rs121908569
GWAS Ctlg	rs121908569

Max Magnitude

0

OMIM	604032
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908569(A;A)
Alt	rs121908569(A;A)
Reference	Rs121908569(G;G)
Significance	Pathogenic
Disease	Wolcott-Rallison dysplasia
Variation	info
Gene	EIF2AK3
CLNDBN	Wolcott-Rallison dysplasia
Reversed	1
HGVS	NC_000002.11:g.88882948C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006233.3,