rs113993973

Orientation

minus

Stabilized

minus

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

Make rs113993973(C;T)

Make rs113993973(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50937801

Gene

PYGL

is a	snp
is	mentioned by
dbSNP	rs113993973
dbSNP (classic)	rs113993973
ClinGen	rs113993973
ebi	rs113993973
HLI	rs113993973
Exac	rs113993973
Gnomad	rs113993973
Varsome	rs113993973
LitVar	rs113993973
Map	rs113993973
PheGenI	rs113993973
Biobank	rs113993973
1000 genomes	rs113993973
hgdp	rs113993973
ensembl	rs113993973
geneview	rs113993973
scholar	rs113993973
google	rs113993973
pharmgkb	rs113993973
gwascentral	rs113993973
openSNP	rs113993973
23andMe	rs113993973
SNPshot	rs113993973
SNPdbe	rs113993973
MSV3d	rs113993973
GWAS Ctlg	rs113993973

Max Magnitude

0

ClinVar
Risk	rs113993973(T;T)
Alt	rs113993973(T;T)
Reference	Rs113993973(C;C)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGL
CLNDBN	Glycogen storage disease, type VI
Reversed	1
HGVS	NC_000014.8:g.51404519G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020502.2,