rs113993984

Orientation

minus

Stabilized

minus

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

Make rs113993984(A;A)

Make rs113993984(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50910055

Gene

PYGL

is a	snp
is	mentioned by
dbSNP	rs113993984
dbSNP (classic)	rs113993984
ClinGen	rs113993984
ebi	rs113993984
HLI	rs113993984
Exac	rs113993984
Gnomad	rs113993984
Varsome	rs113993984
LitVar	rs113993984
Map	rs113993984
PheGenI	rs113993984
Biobank	rs113993984
1000 genomes	rs113993984
hgdp	rs113993984
ensembl	rs113993984
geneview	rs113993984
scholar	rs113993984
google	rs113993984
pharmgkb	rs113993984
gwascentral	rs113993984
openSNP	rs113993984
23andMe	rs113993984
SNPshot	rs113993984
SNPdbe	rs113993984
MSV3d	rs113993984
GWAS Ctlg	rs113993984

Max Magnitude

0

ClinVar
Risk	rs113993984(A;A)
Alt	rs113993984(A;A)
Reference	Rs113993984(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.51376773C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020497.2,

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