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rs1057517008

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517008(A;C)
Make rs1057517008(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position42901037
GeneG6PC
is asnp
is mentioned by
dbSNPrs1057517008
dbSNP (old)rs1057517008
ClinGenrs1057517008
ebirs1057517008
HLIrs1057517008
Exacrs1057517008
Gnomadrs1057517008
Varsomers1057517008
Maprs1057517008
PheGenIrs1057517008
Biobankrs1057517008
1000 genomesrs1057517008
hgdprs1057517008
ensemblrs1057517008
gopubmedrs1057517008
geneviewrs1057517008
scholarrs1057517008
googlers1057517008
pharmgkbrs1057517008
gwascentralrs1057517008
openSNPrs1057517008
23andMers1057517008
23andMe allrs1057517008
SNPshotrs1057517008
SNPdbers1057517008
MSV3drs1057517008
GWAS Ctlgrs1057517008
Max Magnitude0
ClinVar
Risk rs1057517008(C;C)
Alt rs1057517008(C;C)
Reference Rs1057517008(A;A)
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.41053054A>C
CLNSRC
CLNACC RCV000411603.1,