rs113993974

Orientation

minus

Stabilized

minus

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

Make rs113993974(C;C)

Make rs113993974(C;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50924101

Gene

PYGL

is a	snp
is	mentioned by
dbSNP	rs113993974
dbSNP (classic)	rs113993974
ClinGen	rs113993974
ebi	rs113993974
HLI	rs113993974
Exac	rs113993974
Gnomad	rs113993974
Varsome	rs113993974
LitVar	rs113993974
Map	rs113993974
PheGenI	rs113993974
Biobank	rs113993974
1000 genomes	rs113993974
hgdp	rs113993974
ensembl	rs113993974
geneview	rs113993974
scholar	rs113993974
google	rs113993974
pharmgkb	rs113993974
gwascentral	rs113993974
openSNP	rs113993974
23andMe	rs113993974
SNPshot	rs113993974
SNPdbe	rs113993974
MSV3d	rs113993974
GWAS Ctlg	rs113993974

Max Magnitude

0

OMIM	232700
Desc
Variant	0002
Related	also

ClinVar
Risk	rs113993974(C;C)
Alt	rs113993974(C;C)
Reference	Rs113993974(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.51390819C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012773.3,

[PMID 9529348] Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.