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rs35026927

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs35026927(C;C)
Make rs35026927(C;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position50911799
GenePYGL
is asnp
is mentioned by
dbSNPrs35026927
ebirs35026927
HLIrs35026927
Exacrs35026927
Varsomers35026927
Maprs35026927
PheGenIrs35026927
hapmaprs35026927
1000 genomesrs35026927
hgdprs35026927
ensemblrs35026927
gopubmedrs35026927
geneviewrs35026927
scholarrs35026927
googlers35026927
pharmgkbrs35026927
gwascentralrs35026927
openSNPrs35026927
23andMers35026927
23andMe allrs35026927
SNP Nexus

SNPshotrs35026927
SNPdbers35026927
MSV3drs35026927
GWAS Ctlgrs35026927
GMAF0.002755
Max Magnitude0
ClinVar
Risk rs35026927(C,T;C,T)
Alt rs35026927(C,T;C,T)
Reference rs35026927(G;G)
Significance Pathogenic
Disease Glycogen storage disease not provided
Variation info
Gene PYGL
CLNDBN Glycogen storage disease, type VI not provided
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.