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rs150547274

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs150547274(G;T)
Make rs150547274(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position50911752
GenePYGL
is asnp
is mentioned by
dbSNPrs150547274
ebirs150547274
HLIrs150547274
Exacrs150547274
Varsomers150547274
Maprs150547274
PheGenIrs150547274
hapmaprs150547274
1000 genomesrs150547274
hgdprs150547274
ensemblrs150547274
gopubmedrs150547274
geneviewrs150547274
scholarrs150547274
googlers150547274
pharmgkbrs150547274
gwascentralrs150547274
openSNPrs150547274
23andMers150547274
23andMe allrs150547274
SNP Nexus

SNPshotrs150547274
SNPdbers150547274
MSV3drs150547274
GWAS Ctlgrs150547274
Max Magnitude0
ClinVar
Risk rs150547274(T;T)
Alt rs150547274(T;T)
Reference rs150547274(G;G)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGL
CLNDBN Glycogen storage disease, type VI
Reversed 0
HGVS NC_000014.8:g.51378470G>T
CLNSRC
CLNACC RCV000175037.1,