rs113993987

Orientation

minus

Stabilized

minus

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

Make rs113993987(A;C)

Make rs113993987(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50910030

Gene

PYGL

is a	snp
is	mentioned by
dbSNP	rs113993987
dbSNP (classic)	rs113993987
ClinGen	rs113993987
ebi	rs113993987
HLI	rs113993987
Exac	rs113993987
Gnomad	rs113993987
Varsome	rs113993987
LitVar	rs113993987
Map	rs113993987
PheGenI	rs113993987
Biobank	rs113993987
1000 genomes	rs113993987
hgdp	rs113993987
ensembl	rs113993987
geneview	rs113993987
scholar	rs113993987
google	rs113993987
pharmgkb	rs113993987
gwascentral	rs113993987
openSNP	rs113993987
23andMe	rs113993987
SNPshot	rs113993987
SNPdbe	rs113993987
MSV3d	rs113993987
GWAS Ctlg	rs113993987

Max Magnitude

0

ClinVar
Risk	rs113993987(C;C)
Alt	rs113993987(C;C)
Reference	Rs113993987(A;A)
Significance	Other
Disease	Glycogen storage disease
Variation	info
Gene	PYGL
CLNDBN	Glycogen storage disease, type VI
Reversed	1
HGVS	NC_000014.8:g.51376748T>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020500.2,

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