Rs113993977

Orientation

minus

is a	snp
is	mentioned by
dbSNP	rs113993977
PheGenI	rs113993977
nextbio	rs113993977
hapmap	rs113993977
1000 genomes	rs113993977
hgdp	rs113993977
ensembl	rs113993977
gopubmed	rs113993977
geneview	rs113993977
scholar	rs113993977
google	rs113993977
pharmgkb	rs113993977
gwascentral	rs113993977
openSNP	rs113993977
23andMe	rs113993977
23andMe all	rs113993977
SNP Nexus
SNPshot	rs113993977
SNPdbe	rs113993977
MSV3d	rs113993977

Gene

PYGL

Chromosome

14

Orientation

minus

Position

51382651

Reference

GRCh37 37.1/132

Max Magnitude

0

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

Make rs113993977(C;G)

Make rs113993977(G;G)

OMIM	232700
Desc
Variant	0004
Related	also

ClinVar
Risk	rs113993977(G;G)
Normal	rs113993977(C;C)
Significance	5
Disease	Glycogen storage disease
ClinVar	info
Gene	PYGL
CLNDBN	Glycogen storage disease, type VI
Reversed	1
CLNHGVS	NC_000014.8:g.51382651G>C
CLNSRC	OMIM Allelic Variant, GeneReviews

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