rs113993986

Orientation

minus

Stabilized

minus

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

Make rs113993986(C;T)

Make rs113993986(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50910048

Gene

PYGL

is a	snp
is	mentioned by
dbSNP	rs113993986
dbSNP (classic)	rs113993986
ClinGen	rs113993986
ebi	rs113993986
HLI	rs113993986
Exac	rs113993986
Gnomad	rs113993986
Varsome	rs113993986
LitVar	rs113993986
Map	rs113993986
PheGenI	rs113993986
Biobank	rs113993986
1000 genomes	rs113993986
hgdp	rs113993986
ensembl	rs113993986
geneview	rs113993986
scholar	rs113993986
google	rs113993986
pharmgkb	rs113993986
gwascentral	rs113993986
openSNP	rs113993986
23andMe	rs113993986
SNPshot	rs113993986
SNPdbe	rs113993986
MSV3d	rs113993986
GWAS Ctlg	rs113993986

Max Magnitude

0

ClinVar
Risk	rs113993986(G;G) rs113993986(T;T)
Alt	rs113993986(G;G) rs113993986(T;T)
Reference	Rs113993986(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.51376766G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020499.2,

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