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rs397514631

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514631(A;G)
Make rs397514631(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position64759747
GenePYGM
is asnp
is mentioned by
dbSNPrs397514631
ebirs397514631
HLIrs397514631
Exacrs397514631
Varsomers397514631
Maprs397514631
PheGenIrs397514631
hapmaprs397514631
1000 genomesrs397514631
hgdprs397514631
ensemblrs397514631
gopubmedrs397514631
geneviewrs397514631
scholarrs397514631
googlers397514631
pharmgkbrs397514631
gwascentralrs397514631
openSNPrs397514631
23andMers397514631
23andMe allrs397514631
SNP Nexus

SNPshotrs397514631
SNPdbers397514631
MSV3drs397514631
GWAS Ctlgrs397514631
Max Magnitude0
ClinVar
Risk rs397514631(G;G)
Alt rs397514631(G;G)
Reference rs397514631(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.64527219T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033140.4,