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rs387906505

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906505(A;A)
Make rs387906505(A;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42911374
GeneG6PC
is asnp
is mentioned by
dbSNPrs387906505
dbSNP (classic)rs387906505
ClinGenrs387906505
ebirs387906505
HLIrs387906505
Exacrs387906505
Gnomadrs387906505
Varsomers387906505
LitVarrs387906505
Maprs387906505
PheGenIrs387906505
Biobankrs387906505
1000 genomesrs387906505
hgdprs387906505
ensemblrs387906505
geneviewrs387906505
scholarrs387906505
googlers387906505
pharmgkbrs387906505
gwascentralrs387906505
openSNPrs387906505
23andMers387906505
SNPshotrs387906505
SNPdbers387906505
MSV3drs387906505
GWAS Ctlgrs387906505
Max Magnitude0
ClinVar
Risk rs387906505(A;A)
Alt rs387906505(A;A)
Reference Rs387906505(T;T)
Significance Pathogenic
Disease Glycogen storage disease type 1A
Variation info
Gene G6PC
CLNDBN Glycogen storage disease type 1A
Reversed 0
HGVS NC_000017.10:g.41063391T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012789.3,