rs113993980

Orientation

minus

Stabilized

minus

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

Make rs113993980(C;T)

Make rs113993980(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50914748

Gene

PYGL

is a	snp
is	mentioned by
dbSNP	rs113993980
dbSNP (classic)	rs113993980
ClinGen	rs113993980
ebi	rs113993980
HLI	rs113993980
Exac	rs113993980
Gnomad	rs113993980
Varsome	rs113993980
LitVar	rs113993980
Map	rs113993980
PheGenI	rs113993980
Biobank	rs113993980
1000 genomes	rs113993980
hgdp	rs113993980
ensembl	rs113993980
geneview	rs113993980
scholar	rs113993980
google	rs113993980
pharmgkb	rs113993980
gwascentral	rs113993980
openSNP	rs113993980
23andMe	rs113993980
SNPshot	rs113993980
SNPdbe	rs113993980
MSV3d	rs113993980
GWAS Ctlg	rs113993980

Max Magnitude

0

ClinVar
Risk	rs113993980(T;T)
Alt	rs113993980(T;T)
Reference	Rs113993980(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.51381466G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020494.2,

[PMID 17705025] High frequency of missense mutations in glycogen storage disease type VI.