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rs1057517067

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517067(-;T)
Make rs1057517067(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position64750416
GenePYGM
is asnp
is mentioned by
dbSNPrs1057517067
dbSNP (old)rs1057517067
ClinGenrs1057517067
ebirs1057517067
HLIrs1057517067
Exacrs1057517067
Gnomadrs1057517067
Varsomers1057517067
Maprs1057517067
PheGenIrs1057517067
Biobankrs1057517067
1000 genomesrs1057517067
hgdprs1057517067
ensemblrs1057517067
gopubmedrs1057517067
geneviewrs1057517067
scholarrs1057517067
googlers1057517067
pharmgkbrs1057517067
gwascentralrs1057517067
openSNPrs1057517067
23andMers1057517067
23andMe allrs1057517067
SNPshotrs1057517067
SNPdbers1057517067
MSV3drs1057517067
GWAS Ctlgrs1057517067
Max Magnitude0
ClinVar
Risk rs1057517067(T;T)
Alt rs1057517067(T;T)
Reference Rs1057517067(-;-)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64517889dupA
CLNSRC
CLNACC RCV000410560.1,