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rs786204723

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204723(-;-)
Make rs786204723(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position64758454
GenePYGM
is asnp
is mentioned by
dbSNPrs786204723
dbSNP (classic)rs786204723
ClinGenrs786204723
ebirs786204723
HLIrs786204723
Exacrs786204723
Gnomadrs786204723
Varsomers786204723
LitVarrs786204723
Maprs786204723
PheGenIrs786204723
Biobankrs786204723
1000 genomesrs786204723
hgdprs786204723
ensemblrs786204723
geneviewrs786204723
scholarrs786204723
googlers786204723
pharmgkbrs786204723
gwascentralrs786204723
openSNPrs786204723
23andMers786204723
SNPshotrs786204723
SNPdbers786204723
MSV3drs786204723
GWAS Ctlgrs786204723
Max Magnitude0
ClinVar
Risk rs786204723(-;-)
Alt rs786204723(-;-)
Reference Rs786204723(G;G)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64525926delC
CLNSRC
CLNACC RCV000169547.1,