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rs1057517361

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517361(C;T)
Make rs1057517361(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position64759682
GenePYGM
is asnp
is mentioned by
dbSNPrs1057517361
dbSNP (old)rs1057517361
ClinGenrs1057517361
ebirs1057517361
HLIrs1057517361
Exacrs1057517361
Gnomadrs1057517361
Varsomers1057517361
LitVarrs1057517361
Maprs1057517361
PheGenIrs1057517361
Biobankrs1057517361
1000 genomesrs1057517361
hgdprs1057517361
ensemblrs1057517361
gopubmedrs1057517361
geneviewrs1057517361
scholarrs1057517361
googlers1057517361
pharmgkbrs1057517361
gwascentralrs1057517361
openSNPrs1057517361
23andMers1057517361
23andMe allrs1057517361
SNPshotrs1057517361
SNPdbers1057517361
MSV3drs1057517361
GWAS Ctlgrs1057517361
Max Magnitude0
ClinVar
Risk rs1057517361(T;T)
Alt rs1057517361(T;T)
Reference Rs1057517361(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.64527154G>A
CLNSRC
CLNACC RCV000409722.1,