rs113993976

Orientation

minus

Stabilized

minus

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

Make rs113993976(A;G)

Make rs113993976(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50916718

Gene

PYGL

is a	snp
is	mentioned by
dbSNP	rs113993976
dbSNP (classic)	rs113993976
ClinGen	rs113993976
ebi	rs113993976
HLI	rs113993976
Exac	rs113993976
Gnomad	rs113993976
Varsome	rs113993976
LitVar	rs113993976
Map	rs113993976
PheGenI	rs113993976
Biobank	rs113993976
1000 genomes	rs113993976
hgdp	rs113993976
ensembl	rs113993976
geneview	rs113993976
scholar	rs113993976
google	rs113993976
pharmgkb	rs113993976
gwascentral	rs113993976
openSNP	rs113993976
23andMe	rs113993976
SNPshot	rs113993976
SNPdbe	rs113993976
MSV3d	rs113993976
GWAS Ctlg	rs113993976

Max Magnitude

0

OMIM	232700
Desc
Variant	0003
Related	also

ClinVar
Risk	rs113993976(G;G)
Alt	rs113993976(G;G)
Reference	Rs113993976(A;A)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGL
CLNDBN	Glycogen storage disease, type VI
Reversed	1
HGVS	NC_000014.8:g.51383436T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000031853.3,

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