rs113993972

Orientation

minus

Stabilized

minus

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

Make rs113993972(A;C)

Make rs113993972(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50944366

Gene	LOC105370492, PYGL

is a	snp
is	mentioned by
dbSNP	rs113993972
dbSNP (classic)	rs113993972
ClinGen	rs113993972
ebi	rs113993972
HLI	rs113993972
Exac	rs113993972
Gnomad	rs113993972
Varsome	rs113993972
LitVar	rs113993972
Map	rs113993972
PheGenI	rs113993972
Biobank	rs113993972
1000 genomes	rs113993972
hgdp	rs113993972
ensembl	rs113993972
geneview	rs113993972
scholar	rs113993972
google	rs113993972
pharmgkb	rs113993972
gwascentral	rs113993972
openSNP	rs113993972
23andMe	rs113993972
SNPshot	rs113993972
SNPdbe	rs113993972
MSV3d	rs113993972
GWAS Ctlg	rs113993972

Max Magnitude

0

ClinVar
Risk	rs113993972(C;C)
Alt	rs113993972(C;C)
Reference	Rs113993972(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.51411084T>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020503.2,

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