rs121434584

Orientation

minus

Stabilized

minus

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

Make rs121434584(C;T)

Make rs121434584(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

48974658

Gene

GYS1

is a	snp
is	mentioned by
dbSNP	rs121434584
dbSNP (classic)	rs121434584
ClinGen	rs121434584
ebi	rs121434584
HLI	rs121434584
Exac	rs121434584
Gnomad	rs121434584
Varsome	rs121434584
LitVar	rs121434584
Map	rs121434584
PheGenI	rs121434584
Biobank	rs121434584
1000 genomes	rs121434584
hgdp	rs121434584
ensembl	rs121434584
geneview	rs121434584
scholar	rs121434584
google	rs121434584
pharmgkb	rs121434584
gwascentral	rs121434584
openSNP	rs121434584
23andMe	rs121434584
SNPshot	rs121434584
SNPdbe	rs121434584
MSV3d	rs121434584
GWAS Ctlg	rs121434584

Max Magnitude

0

OMIM	138570
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434584(T;T)
Alt	rs121434584(T;T)
Reference	Rs121434584(C;C)
Significance	Pathogenic
Disease	Glycogen storage disease 0
Variation	info
Gene	GYS1
CLNDBN	Glycogen storage disease 0, muscle
Reversed	1
HGVS	NC_000019.9:g.49477915G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017435.29,