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rs1057516468

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516468(G;G)
Make rs1057516468(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position64758244
GenePYGM
is asnp
is mentioned by
dbSNPrs1057516468
dbSNP (old)rs1057516468
ClinGenrs1057516468
ebirs1057516468
HLIrs1057516468
Exacrs1057516468
Gnomadrs1057516468
Varsomers1057516468
Maprs1057516468
PheGenIrs1057516468
Biobankrs1057516468
1000 genomesrs1057516468
hgdprs1057516468
ensemblrs1057516468
gopubmedrs1057516468
geneviewrs1057516468
scholarrs1057516468
googlers1057516468
pharmgkbrs1057516468
gwascentralrs1057516468
openSNPrs1057516468
23andMers1057516468
23andMe allrs1057516468
SNPshotrs1057516468
SNPdbers1057516468
MSV3drs1057516468
GWAS Ctlgrs1057516468
Max Magnitude0
ClinVar
Risk rs1057516468(G;G)
Alt rs1057516468(G;G)
Reference Rs1057516468(T;T)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64525716A>C
CLNSRC
CLNACC RCV000410907.1,