rs35026927

Orientation

minus

Stabilized

minus

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

Make rs35026927(C;C)

Make rs35026927(C;G)

Reference

GRCh38 38.1/142

Chromosome

14

Position

50911799

Gene

PYGL

is a	snp
is	mentioned by
dbSNP	rs35026927
dbSNP (classic)	rs35026927
ClinGen	rs35026927
ebi	rs35026927
HLI	rs35026927
Exac	rs35026927
Gnomad	rs35026927
Varsome	rs35026927
LitVar	rs35026927
Map	rs35026927
PheGenI	rs35026927
Biobank	rs35026927
1000 genomes	rs35026927
hgdp	rs35026927
ensembl	rs35026927
geneview	rs35026927
scholar	rs35026927
google	rs35026927
pharmgkb	rs35026927
gwascentral	rs35026927
openSNP	rs35026927
23andMe	rs35026927
SNPshot	rs35026927
SNPdbe	rs35026927
MSV3d	rs35026927
GWAS Ctlg	rs35026927

GMAF

0.002755

Max Magnitude

0

ClinVar
Risk	rs35026927(C;C) rs35026927(T;T)
Alt	rs35026927(C;C) rs35026927(T;T)
Reference	Rs35026927(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease not specified
Variation	info
Gene	PYGL
CLNDBN	Glycogen storage disease, type VI not specified
Reversed	1
HGVS	NC_000014.8:g.51378517C>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020496.2, RCV000175038.1,

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