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rs1057516329

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACTACCTGTCT;ACTACCTGTCT) 0 common in clinvar
Make rs1057516329(-;-)
Make rs1057516329(-;ACTACCTGTCT)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position64758687
GenePYGM
is asnp
is mentioned by
dbSNPrs1057516329
dbSNP (classic)rs1057516329
ClinGenrs1057516329
ebirs1057516329
HLIrs1057516329
Exacrs1057516329
Gnomadrs1057516329
Varsomers1057516329
LitVarrs1057516329
Maprs1057516329
PheGenIrs1057516329
Biobankrs1057516329
1000 genomesrs1057516329
hgdprs1057516329
ensemblrs1057516329
geneviewrs1057516329
scholarrs1057516329
googlers1057516329
pharmgkbrs1057516329
gwascentralrs1057516329
openSNPrs1057516329
23andMers1057516329
23andMe allrs1057516329
SNPshotrs1057516329
SNPdbers1057516329
MSV3drs1057516329
GWAS Ctlgrs1057516329
Max Magnitude0
ClinVar
Risk rs1057516329(-;-)
Alt rs1057516329(-;-)
Reference Rs1057516329(ACTACCTGTCT;ACTACCTGTCT)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64526159_64526169delAGACAGGTAGT
CLNSRC
CLNACC RCV000412395.1,