rs113993981

Orientation

minus

Stabilized

minus

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

Make rs113993981(A;A)

Make rs113993981(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50913028

Gene

PYGL

is a	snp
is	mentioned by
dbSNP	rs113993981
dbSNP (classic)	rs113993981
ClinGen	rs113993981
ebi	rs113993981
HLI	rs113993981
Exac	rs113993981
Gnomad	rs113993981
Varsome	rs113993981
LitVar	rs113993981
Map	rs113993981
PheGenI	rs113993981
Biobank	rs113993981
1000 genomes	rs113993981
hgdp	rs113993981
ensembl	rs113993981
geneview	rs113993981
scholar	rs113993981
google	rs113993981
pharmgkb	rs113993981
gwascentral	rs113993981
openSNP	rs113993981
23andMe	rs113993981
SNPshot	rs113993981
SNPdbe	rs113993981
MSV3d	rs113993981
GWAS Ctlg	rs113993981

Max Magnitude

0

OMIM	232700
Desc
Variant	0005
Related	also

ClinVar
Risk	rs113993981(A;A) rs113993981(C;C)
Alt	rs113993981(A;A) rs113993981(C;C)
Reference	Rs113993981(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGL
CLNDBN	Glycogen storage disease, type VI
Reversed	1
HGVS	NC_000014.8:g.51379746C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012776.3,

[PMID 9536091] Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.