rs113993979

Orientation

minus

Stabilized

minus

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

Make rs113993979(A;A)

Make rs113993979(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50915373

Gene

PYGL

is a	snp
is	mentioned by
dbSNP	rs113993979
dbSNP (classic)	rs113993979
ClinGen	rs113993979
ebi	rs113993979
HLI	rs113993979
Exac	rs113993979
Gnomad	rs113993979
Varsome	rs113993979
LitVar	rs113993979
Map	rs113993979
PheGenI	rs113993979
Biobank	rs113993979
1000 genomes	rs113993979
hgdp	rs113993979
ensembl	rs113993979
geneview	rs113993979
scholar	rs113993979
google	rs113993979
pharmgkb	rs113993979
gwascentral	rs113993979
openSNP	rs113993979
23andMe	rs113993979
SNPshot	rs113993979
SNPdbe	rs113993979
MSV3d	rs113993979
GWAS Ctlg	rs113993979

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs113993979(A;A)
Alt	rs113993979(A;A)
Reference	Rs113993979(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.51382091C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020493.2,

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