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rs104894030

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894030(A;C)
Make rs104894030(C;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position44065264
GeneBOLA3-AS1, PGAM2
is asnp
is mentioned by
dbSNPrs104894030
ebirs104894030
HLIrs104894030
Exacrs104894030
Varsomers104894030
Maprs104894030
PheGenIrs104894030
hapmaprs104894030
1000 genomesrs104894030
hgdprs104894030
ensemblrs104894030
gopubmedrs104894030
geneviewrs104894030
scholarrs104894030
googlers104894030
pharmgkbrs104894030
gwascentralrs104894030
openSNPrs104894030
23andMers104894030
23andMe allrs104894030
SNP Nexus

SNPshotrs104894030
SNPdbers104894030
MSV3drs104894030
GWAS Ctlgrs104894030
Max Magnitude0
OMIM612931
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894030(C;C)
Alt rs104894030(C;C)
Reference rs104894030(A;A)
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.44104863T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000447.2,