rs529502292

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(D;D)	0	common genotype

Make rs529502292(-;G)

Make rs529502292(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

14

Position

50912275

Gene

PYGL

is a	snp
is	mentioned by
dbSNP	rs529502292
dbSNP (classic)	rs529502292
ClinGen	rs529502292
ebi	rs529502292
HLI	rs529502292
Exac	rs529502292
Gnomad	rs529502292
Varsome	rs529502292
LitVar	rs529502292
Map	rs529502292
PheGenI	rs529502292
Biobank	rs529502292
1000 genomes	rs529502292
hgdp	rs529502292
ensembl	rs529502292
geneview	rs529502292
scholar	rs529502292
google	rs529502292
pharmgkb	rs529502292
gwascentral	rs529502292
openSNP	rs529502292
23andMe	rs529502292
SNPshot	rs529502292
SNPdbe	rs529502292
MSV3d	rs529502292
GWAS Ctlg	rs529502292

Max Magnitude

0

ClinVar
Risk	rs529502292(G;G)
Alt	rs529502292(G;G)
Reference	Rs529502292(-;-)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGL
CLNDBN	Glycogen storage disease, type VI
Reversed	0
HGVS	NC_000014.8:g.51378994dupG
CLNSRC
CLNACC	RCV000174737.1,