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rs1057516349

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516349(A;A)
Make rs1057516349(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position64759695
GenePYGM
is asnp
is mentioned by
dbSNPrs1057516349
dbSNP (old)rs1057516349
ClinGenrs1057516349
ebirs1057516349
HLIrs1057516349
Exacrs1057516349
Gnomadrs1057516349
Varsomers1057516349
Maprs1057516349
PheGenIrs1057516349
Biobankrs1057516349
1000 genomesrs1057516349
hgdprs1057516349
ensemblrs1057516349
gopubmedrs1057516349
geneviewrs1057516349
scholarrs1057516349
googlers1057516349
pharmgkbrs1057516349
gwascentralrs1057516349
openSNPrs1057516349
23andMers1057516349
23andMe allrs1057516349
SNPshotrs1057516349
SNPdbers1057516349
MSV3drs1057516349
GWAS Ctlgrs1057516349
Max Magnitude0
ClinVar
Risk rs1057516349(A;A)
Alt rs1057516349(A;A)
Reference Rs1057516349(G;G)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64527167C>T
CLNSRC
CLNACC RCV000411559.1,