rs113993977

Orientation

minus

Stabilized

minus

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

Make rs113993977(C;G)

Make rs113993977(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50915933

Gene

PYGL

is a	snp
is	mentioned by
dbSNP	rs113993977
dbSNP (classic)	rs113993977
ClinGen	rs113993977
ebi	rs113993977
HLI	rs113993977
Exac	rs113993977
Gnomad	rs113993977
Varsome	rs113993977
LitVar	rs113993977
Map	rs113993977
PheGenI	rs113993977
Biobank	rs113993977
1000 genomes	rs113993977
hgdp	rs113993977
ensembl	rs113993977
geneview	rs113993977
scholar	rs113993977
google	rs113993977
pharmgkb	rs113993977
gwascentral	rs113993977
openSNP	rs113993977
23andMe	rs113993977
SNPshot	rs113993977
SNPdbe	rs113993977
MSV3d	rs113993977
GWAS Ctlg	rs113993977

Max Magnitude

0

OMIM	232700
Desc
Variant	0004
Related	also

ClinVar
Risk	rs113993977(G;G)
Alt	rs113993977(G;G)
Reference	Rs113993977(C;C)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGL
CLNDBN	Glycogen storage disease, type VI
Reversed	1
HGVS	NC_000014.8:g.51382651G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012775.4,

[PMID 9529348] Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.