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rs1057516630

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516630(-;T)
Make rs1057516630(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position42909355
GeneG6PC
is asnp
is mentioned by
dbSNPrs1057516630
dbSNP (old)rs1057516630
ClinGenrs1057516630
ebirs1057516630
HLIrs1057516630
Exacrs1057516630
Gnomadrs1057516630
Varsomers1057516630
Maprs1057516630
PheGenIrs1057516630
Biobankrs1057516630
1000 genomesrs1057516630
hgdprs1057516630
ensemblrs1057516630
gopubmedrs1057516630
geneviewrs1057516630
scholarrs1057516630
googlers1057516630
pharmgkbrs1057516630
gwascentralrs1057516630
openSNPrs1057516630
23andMers1057516630
23andMe allrs1057516630
SNPshotrs1057516630
SNPdbers1057516630
MSV3drs1057516630
GWAS Ctlgrs1057516630
Max Magnitude0
ClinVar
Risk rs1057516630(T;T)
Alt rs1057516630(T;T)
Reference Rs1057516630(-;-)
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.41061372dupT
CLNSRC
CLNACC RCV000412063.1,