rs113993978

Orientation

minus

Stabilized

minus

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

Make rs113993978(C;T)

Make rs113993978(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50915869

Gene

PYGL

is a	snp
is	mentioned by
dbSNP	rs113993978
dbSNP (classic)	rs113993978
ClinGen	rs113993978
ebi	rs113993978
HLI	rs113993978
Exac	rs113993978
Gnomad	rs113993978
Varsome	rs113993978
LitVar	rs113993978
Map	rs113993978
PheGenI	rs113993978
Biobank	rs113993978
1000 genomes	rs113993978
hgdp	rs113993978
ensembl	rs113993978
geneview	rs113993978
scholar	rs113993978
google	rs113993978
pharmgkb	rs113993978
gwascentral	rs113993978
openSNP	rs113993978
23andMe	rs113993978
SNPshot	rs113993978
SNPdbe	rs113993978
MSV3d	rs113993978
GWAS Ctlg	rs113993978

Max Magnitude

0

ClinVar
Risk	rs113993978(T;T)
Alt	rs113993978(T;T)
Reference	Rs113993978(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.51382587G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020492.2,

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