rs113993988

Orientation

minus

Stabilized

minus

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

Make rs113993988(C;C)

Make rs113993988(C;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50905475

Gene

PYGL

is a	snp
is	mentioned by
dbSNP	rs113993988
dbSNP (classic)	rs113993988
ClinGen	rs113993988
ebi	rs113993988
HLI	rs113993988
Exac	rs113993988
Gnomad	rs113993988
Varsome	rs113993988
LitVar	rs113993988
Map	rs113993988
PheGenI	rs113993988
Biobank	rs113993988
1000 genomes	rs113993988
hgdp	rs113993988
ensembl	rs113993988
geneview	rs113993988
scholar	rs113993988
google	rs113993988
pharmgkb	rs113993988
gwascentral	rs113993988
openSNP	rs113993988
23andMe	rs113993988
SNPshot	rs113993988
SNPdbe	rs113993988
MSV3d	rs113993988
GWAS Ctlg	rs113993988

Max Magnitude

0

ClinVar
Risk	rs113993988(C;C)
Alt	rs113993988(C;C)
Reference	Rs113993988(T;T)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGL
CLNDBN	Glycogen storage disease, type VI
Reversed	1
HGVS	NC_000014.8:g.51372193A>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020501.2,