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rs1057516629

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516629(-;-)
Make rs1057516629(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position64758695
GenePYGM
is asnp
is mentioned by
dbSNPrs1057516629
dbSNP (old)rs1057516629
ClinGenrs1057516629
ebirs1057516629
HLIrs1057516629
Exacrs1057516629
Gnomadrs1057516629
Varsomers1057516629
Maprs1057516629
PheGenIrs1057516629
Biobankrs1057516629
1000 genomesrs1057516629
hgdprs1057516629
ensemblrs1057516629
gopubmedrs1057516629
geneviewrs1057516629
scholarrs1057516629
googlers1057516629
pharmgkbrs1057516629
gwascentralrs1057516629
openSNPrs1057516629
23andMers1057516629
23andMe allrs1057516629
SNPshotrs1057516629
SNPdbers1057516629
MSV3drs1057516629
GWAS Ctlgrs1057516629
Max Magnitude0
ClinVar
Risk rs1057516629(-;-)
Alt rs1057516629(-;-)
Reference Rs1057516629(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.64526167delA
CLNSRC
CLNACC RCV000409457.1,