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rs1057517442

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517442(C;C)
Make rs1057517442(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position64751596
GenePYGM
is asnp
is mentioned by
dbSNPrs1057517442
dbSNP (old)rs1057517442
ClinGenrs1057517442
ebirs1057517442
HLIrs1057517442
Exacrs1057517442
Gnomadrs1057517442
Varsomers1057517442
Maprs1057517442
PheGenIrs1057517442
Biobankrs1057517442
1000 genomesrs1057517442
hgdprs1057517442
ensemblrs1057517442
gopubmedrs1057517442
geneviewrs1057517442
scholarrs1057517442
googlers1057517442
pharmgkbrs1057517442
gwascentralrs1057517442
openSNPrs1057517442
23andMers1057517442
23andMe allrs1057517442
SNPshotrs1057517442
SNPdbers1057517442
MSV3drs1057517442
GWAS Ctlgrs1057517442
Max Magnitude0
ClinVar
Risk rs1057517442(C;C)
Alt rs1057517442(C;C)
Reference Rs1057517442(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.64519068C>G
CLNSRC
CLNACC RCV000409723.1,