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rs116135678

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116135678(A;A)
Make rs116135678(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position64754024
GenePYGM
is asnp
is mentioned by
dbSNPrs116135678
ebirs116135678
HLIrs116135678
Exacrs116135678
Varsomers116135678
Maprs116135678
PheGenIrs116135678
hapmaprs116135678
1000 genomesrs116135678
hgdprs116135678
ensemblrs116135678
gopubmedrs116135678
geneviewrs116135678
scholarrs116135678
googlers116135678
pharmgkbrs116135678
gwascentralrs116135678
openSNPrs116135678
23andMers116135678
23andMe allrs116135678
SNP Nexus

SNPshotrs116135678
SNPdbers116135678
MSV3drs116135678
GWAS Ctlgrs116135678
Max Magnitude0
ClinVar
Risk rs116135678(A;A)
Alt rs116135678(A;A)
Reference rs116135678(G;G)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 0
HGVS NC_000011.9:g.64521496G>A
CLNSRC
CLNACC RCV000185576.2,