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rs104894034

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894034(C;T)
Make rs104894034(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44065262
GeneBOLA3-AS1, PGAM2
is asnp
is mentioned by
dbSNPrs104894034
ebirs104894034
HLIrs104894034
Exacrs104894034
Varsomers104894034
Maprs104894034
PheGenIrs104894034
hapmaprs104894034
1000 genomesrs104894034
hgdprs104894034
ensemblrs104894034
gopubmedrs104894034
geneviewrs104894034
scholarrs104894034
googlers104894034
pharmgkbrs104894034
gwascentralrs104894034
openSNPrs104894034
23andMers104894034
23andMe allrs104894034
SNP Nexus

SNPshotrs104894034
SNPdbers104894034
MSV3drs104894034
GWAS Ctlgrs104894034
GMAF0.0
Max Magnitude0
OMIM612931
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894034(T;T)
Alt rs104894034(T;T)
Reference rs104894034(C;C)
Significance Pathogenic
Disease Glycogen storage disease type X
Variation info
Gene PGAM2
CLNDBN Glycogen storage disease type X
Reversed 1
HGVS NC_000007.13:g.44104861G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000448.2,