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rs1057516598

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516598(A;A)
Make rs1057516598(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position64750584
GenePYGM
is asnp
is mentioned by
dbSNPrs1057516598
dbSNP (old)rs1057516598
ClinGenrs1057516598
ebirs1057516598
HLIrs1057516598
Exacrs1057516598
Gnomadrs1057516598
Varsomers1057516598
LitVarrs1057516598
Maprs1057516598
PheGenIrs1057516598
Biobankrs1057516598
1000 genomesrs1057516598
hgdprs1057516598
ensemblrs1057516598
gopubmedrs1057516598
geneviewrs1057516598
scholarrs1057516598
googlers1057516598
pharmgkbrs1057516598
gwascentralrs1057516598
openSNPrs1057516598
23andMers1057516598
23andMe allrs1057516598
SNPshotrs1057516598
SNPdbers1057516598
MSV3drs1057516598
GWAS Ctlgrs1057516598
Max Magnitude0
ClinVar
Risk rs1057516598(A;A)
Alt rs1057516598(A;A)
Reference Rs1057516598(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.64518056C>T
CLNSRC
CLNACC RCV000410171.1,