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rs1057517145

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517145(C;G)
Make rs1057517145(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position64758696
GenePYGM
is asnp
is mentioned by
dbSNPrs1057517145
dbSNP (old)rs1057517145
ClinGenrs1057517145
ebirs1057517145
HLIrs1057517145
Exacrs1057517145
Gnomadrs1057517145
Varsomers1057517145
LitVarrs1057517145
Maprs1057517145
PheGenIrs1057517145
Biobankrs1057517145
1000 genomesrs1057517145
hgdprs1057517145
ensemblrs1057517145
gopubmedrs1057517145
geneviewrs1057517145
scholarrs1057517145
googlers1057517145
pharmgkbrs1057517145
gwascentralrs1057517145
openSNPrs1057517145
23andMers1057517145
23andMe allrs1057517145
SNPshotrs1057517145
SNPdbers1057517145
MSV3drs1057517145
GWAS Ctlgrs1057517145
Max Magnitude0
ClinVar
Risk rs1057517145(G;G)
Alt rs1057517145(G;G)
Reference Rs1057517145(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.64526168G>C
CLNSRC
CLNACC RCV000412392.1,