rs121918404

Orientation

plus

Stabilized

plus

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

Make rs121918404(A;A)

Make rs121918404(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

4956626

Gene

ENO3

is a	snp
is	mentioned by
dbSNP	rs121918404
dbSNP (classic)	rs121918404
ClinGen	rs121918404
ebi	rs121918404
HLI	rs121918404
Exac	rs121918404
Gnomad	rs121918404
Varsome	rs121918404
LitVar	rs121918404
Map	rs121918404
PheGenI	rs121918404
Biobank	rs121918404
1000 genomes	rs121918404
hgdp	rs121918404
ensembl	rs121918404
geneview	rs121918404
scholar	rs121918404
google	rs121918404
pharmgkb	rs121918404
gwascentral	rs121918404
openSNP	rs121918404
23andMe	rs121918404
SNPshot	rs121918404
SNPdbe	rs121918404
MSV3d	rs121918404
GWAS Ctlg	rs121918404

Max Magnitude

0

OMIM	131370
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918404(A;A)
Alt	rs121918404(A;A)
Reference	Rs121918404(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease type 13
Variation	info
Gene	ENO3
CLNDBN	Glycogen storage disease type 13
Reversed	0
HGVS	NC_000017.10:g.4859921G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018093.25,