rs121918425

Orientation

minus

Stabilized

minus

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

Make rs121918425(C;G)

Make rs121918425(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

21558286

Gene

GYS2

is a	snp
is	mentioned by
dbSNP	rs121918425
dbSNP (classic)	rs121918425
ClinGen	rs121918425
ebi	rs121918425
HLI	rs121918425
Exac	rs121918425
Gnomad	rs121918425
Varsome	rs121918425
LitVar	rs121918425
Map	rs121918425
PheGenI	rs121918425
Biobank	rs121918425
1000 genomes	rs121918425
hgdp	rs121918425
ensembl	rs121918425
geneview	rs121918425
scholar	rs121918425
google	rs121918425
pharmgkb	rs121918425
gwascentral	rs121918425
openSNP	rs121918425
23andMe	rs121918425
SNPshot	rs121918425
SNPdbe	rs121918425
MSV3d	rs121918425
GWAS Ctlg	rs121918425

Max Magnitude

0

OMIM	138571
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121918425(A;A) rs121918425(G;G)
Alt	rs121918425(A;A) rs121918425(G;G)
Reference	Rs121918425(C;C)
Significance	Pathogenic
Disease	Hypoglycemia with deficiency of glycogen synthetase in the liver
Variation	info
Gene	GYS2
CLNDBN	Hypoglycemia with deficiency of glycogen synthetase in the liver
Reversed	1
HGVS	NC_000012.11:g.21711220G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017434.26,