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rs77938727

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs77938727(C;T)
Make rs77938727(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44065240
GeneBOLA3-AS1, PGAM2
is asnp
is mentioned by
dbSNPrs77938727
ebirs77938727
HLIrs77938727
Exacrs77938727
Varsomers77938727
Maprs77938727
PheGenIrs77938727
hapmaprs77938727
1000 genomesrs77938727
hgdprs77938727
ensemblrs77938727
gopubmedrs77938727
geneviewrs77938727
scholarrs77938727
googlers77938727
pharmgkbrs77938727
gwascentralrs77938727
openSNPrs77938727
23andMers77938727
23andMe allrs77938727
SNP Nexus

SNPshotrs77938727
SNPdbers77938727
MSV3drs77938727
GWAS Ctlgrs77938727
GMAF0.003673
Max Magnitude0
OMIM612931
Desc
Variant0004
Relatedalso
ClinVar
Risk rs77938727(T;T)
Alt rs77938727(T;T)
Reference rs77938727(C;C)
Significance Pathogenic
Disease Glycogen storage disease type X
Variation info
Gene PGAM2
CLNDBN Glycogen storage disease type X
Reversed 0
HGVS NC_000007.13:g.44104839C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000449.2,