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rs1057517227

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517227(-;-)
Make rs1057517227(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position42901012
GeneG6PC
is asnp
is mentioned by
dbSNPrs1057517227
dbSNP (old)rs1057517227
ClinGenrs1057517227
ebirs1057517227
HLIrs1057517227
Exacrs1057517227
Gnomadrs1057517227
Varsomers1057517227
LitVarrs1057517227
Maprs1057517227
PheGenIrs1057517227
Biobankrs1057517227
1000 genomesrs1057517227
hgdprs1057517227
ensemblrs1057517227
gopubmedrs1057517227
geneviewrs1057517227
scholarrs1057517227
googlers1057517227
pharmgkbrs1057517227
gwascentralrs1057517227
openSNPrs1057517227
23andMers1057517227
23andMe allrs1057517227
SNPshotrs1057517227
SNPdbers1057517227
MSV3drs1057517227
GWAS Ctlgrs1057517227
Max Magnitude0
ClinVar
Risk rs1057517227(-;-)
Alt rs1057517227(-;-)
Reference Rs1057517227(C;C)
Significance Probable-Pathogenic
Disease Glycogen storage disease type 1A
Variation info
Gene G6PC
CLNDBN Glycogen storage disease type 1A
Reversed 0
HGVS NC_000017.10:g.41053029delC
CLNSRC
CLNACC RCV000411233.1,