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rs1057516259

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516259(-;-)
Make rs1057516259(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position64752012
GenePYGM
is asnp
is mentioned by
dbSNPrs1057516259
dbSNP (old)rs1057516259
ClinGenrs1057516259
ebirs1057516259
HLIrs1057516259
Exacrs1057516259
Gnomadrs1057516259
Varsomers1057516259
Maprs1057516259
PheGenIrs1057516259
Biobankrs1057516259
1000 genomesrs1057516259
hgdprs1057516259
ensemblrs1057516259
gopubmedrs1057516259
geneviewrs1057516259
scholarrs1057516259
googlers1057516259
pharmgkbrs1057516259
gwascentralrs1057516259
openSNPrs1057516259
23andMers1057516259
23andMe allrs1057516259
SNPshotrs1057516259
SNPdbers1057516259
MSV3drs1057516259
GWAS Ctlgrs1057516259
Max Magnitude0
ClinVar
Risk rs1057516259(-;-)
Alt rs1057516259(-;-)
Reference Rs1057516259(C;C)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64519484delG
CLNSRC
CLNACC RCV000409547.1,