Rs113993976

Orientation

minus

is a	snp
is	mentioned by
dbSNP	rs113993976
PheGenI	rs113993976
nextbio	rs113993976
hapmap	rs113993976
1000 genomes	rs113993976
hgdp	rs113993976
ensembl	rs113993976
gopubmed	rs113993976
geneview	rs113993976
scholar	rs113993976
google	rs113993976
pharmgkb	rs113993976
gwascentral	rs113993976
openSNP	rs113993976
23andMe	rs113993976
23andMe all	rs113993976
SNP Nexus
SNPshot	rs113993976
SNPdbe	rs113993976
MSV3d	rs113993976

Gene

PYGL

Chromosome

14

Orientation

minus

Position

51383436

Reference

GRCh37 37.1/132

Max Magnitude

0

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

Make rs113993976(A;G)

Make rs113993976(G;G)

OMIM	232700
Desc
Variant	0003
Related	also

ClinVar
Risk	rs113993976(G;G)
Normal	rs113993976(A;A)
Significance	5
Disease	Glycogen storage disease
ClinVar	info
Gene	PYGL
CLNDBN	Glycogen storage disease, type VI
Reversed	1
CLNHGVS	NC_000014.8:g.51383436T>C
CLNSRC	OMIM Allelic Variant, GeneReviews

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