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rs786200874

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786200874(-;-)
Make rs786200874(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position64751967
GenePYGM
is asnp
is mentioned by
dbSNPrs786200874
ebirs786200874
HLIrs786200874
Exacrs786200874
Varsomers786200874
Maprs786200874
PheGenIrs786200874
hapmaprs786200874
1000 genomesrs786200874
hgdprs786200874
ensemblrs786200874
gopubmedrs786200874
geneviewrs786200874
scholarrs786200874
googlers786200874
pharmgkbrs786200874
gwascentralrs786200874
openSNPrs786200874
23andMers786200874
23andMe allrs786200874
SNP Nexus

SNPshotrs786200874
SNPdbers786200874
MSV3drs786200874
GWAS Ctlgrs786200874
Max Magnitude0
ClinVar
Risk rs786200874(;)
Alt rs786200874(;)
Reference rs786200874(A;A)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64519439delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000002398.4,