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rs755117847

From SNPedia

Orientationplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs755117847(-;-)
Make rs755117847(-;CA)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position64759820
GenePYGM
is asnp
is mentioned by
dbSNPrs755117847
ebirs755117847
HLIrs755117847
Exacrs755117847
Varsomers755117847
Maprs755117847
PheGenIrs755117847
hapmaprs755117847
1000 genomesrs755117847
hgdprs755117847
ensemblrs755117847
gopubmedrs755117847
geneviewrs755117847
scholarrs755117847
googlers755117847
pharmgkbrs755117847
gwascentralrs755117847
openSNPrs755117847
23andMers755117847
23andMe allrs755117847
SNP Nexus

SNPshotrs755117847
SNPdbers755117847
MSV3drs755117847
GWAS Ctlgrs755117847
Max Magnitude0
ClinVar
Risk rs755117847(;)
Alt rs755117847(;)
Reference rs755117847(CA;CA)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 0
HGVS NC_000011.9:g.64527292_64527293delCA
CLNSRC
CLNACC RCV000169106.1,