Have questions? Visit https://www.reddit.com/r/SNPedia

rs529502292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs529502292(-;G)
Make rs529502292(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position50912275
GenePYGL
is asnp
is mentioned by
dbSNPrs529502292
ClinGenrs529502292
ebirs529502292
HLIrs529502292
Exacrs529502292
Varsomers529502292
Maprs529502292
PheGenIrs529502292
hapmaprs529502292
1000 genomesrs529502292
hgdprs529502292
ensemblrs529502292
gopubmedrs529502292
geneviewrs529502292
scholarrs529502292
googlers529502292
pharmgkbrs529502292
gwascentralrs529502292
openSNPrs529502292
23andMers529502292
23andMe allrs529502292
SNP Nexus

SNPshotrs529502292
SNPdbers529502292
MSV3drs529502292
GWAS Ctlgrs529502292
Max Magnitude0
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,