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rs1057516674

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs1057516674(-;-)
Make rs1057516674(-;GT)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position42901026
GeneG6PC
is asnp
is mentioned by
dbSNPrs1057516674
dbSNP (old)rs1057516674
ClinGenrs1057516674
ebirs1057516674
HLIrs1057516674
Exacrs1057516674
Gnomadrs1057516674
Varsomers1057516674
Maprs1057516674
PheGenIrs1057516674
Biobankrs1057516674
1000 genomesrs1057516674
hgdprs1057516674
ensemblrs1057516674
gopubmedrs1057516674
geneviewrs1057516674
scholarrs1057516674
googlers1057516674
pharmgkbrs1057516674
gwascentralrs1057516674
openSNPrs1057516674
23andMers1057516674
23andMe allrs1057516674
SNPshotrs1057516674
SNPdbers1057516674
MSV3drs1057516674
GWAS Ctlgrs1057516674
Max Magnitude0
ClinVar
Risk rs1057516674(-;-)
Alt rs1057516674(-;-)
Reference Rs1057516674(GT;GT)
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.41053043_41053044delGT
CLNSRC
CLNACC RCV000409261.1,