Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516858

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516858(-;-)
Make rs1057516858(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position42911210
GeneG6PC
is asnp
is mentioned by
dbSNPrs1057516858
dbSNP (old)rs1057516858
ClinGenrs1057516858
ebirs1057516858
HLIrs1057516858
Exacrs1057516858
Gnomadrs1057516858
Varsomers1057516858
Maprs1057516858
PheGenIrs1057516858
Biobankrs1057516858
1000 genomesrs1057516858
hgdprs1057516858
ensemblrs1057516858
gopubmedrs1057516858
geneviewrs1057516858
scholarrs1057516858
googlers1057516858
pharmgkbrs1057516858
gwascentralrs1057516858
openSNPrs1057516858
23andMers1057516858
23andMe allrs1057516858
SNPshotrs1057516858
SNPdbers1057516858
MSV3drs1057516858
GWAS Ctlgrs1057516858
Max Magnitude0
ClinVar
Risk rs1057516858(-;-)
Alt rs1057516858(-;-)
Reference Rs1057516858(G;G)
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.41063227delG
CLNSRC
CLNACC RCV000411293.1,