rs113993983

Orientation

minus

Stabilized

minus

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

Make rs113993983(A;T)

Make rs113993983(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50911804

Gene

PYGL

is a	snp
is	mentioned by
dbSNP	rs113993983
dbSNP (classic)	rs113993983
ClinGen	rs113993983
ebi	rs113993983
HLI	rs113993983
Exac	rs113993983
Gnomad	rs113993983
Varsome	rs113993983
LitVar	rs113993983
Map	rs113993983
PheGenI	rs113993983
Biobank	rs113993983
1000 genomes	rs113993983
hgdp	rs113993983
ensembl	rs113993983
geneview	rs113993983
scholar	rs113993983
google	rs113993983
pharmgkb	rs113993983
gwascentral	rs113993983
openSNP	rs113993983
23andMe	rs113993983
SNPshot	rs113993983
SNPdbe	rs113993983
MSV3d	rs113993983
GWAS Ctlg	rs113993983

Max Magnitude

0

ClinVar
Risk	rs113993983(T;T)
Alt	rs113993983(T;T)
Reference	Rs113993983(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.51378522T>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020495.2,

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