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

rs104894571

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894571(G;G)
Make rs104894571(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42909353
GeneG6PC
is asnp
is mentioned by
dbSNPrs104894571
ebirs104894571
HLIrs104894571
Exacrs104894571
Varsomers104894571
Maprs104894571
PheGenIrs104894571
hapmaprs104894571
1000 genomesrs104894571
hgdprs104894571
ensemblrs104894571
gopubmedrs104894571
geneviewrs104894571
scholarrs104894571
googlers104894571
pharmgkbrs104894571
gwascentralrs104894571
openSNPrs104894571
23andMers104894571
23andMe allrs104894571
SNP Nexus

SNPshotrs104894571
SNPdbers104894571
MSV3drs104894571
GWAS Ctlgrs104894571
Max Magnitude0
OMIM232200
Desc
Variant0014
Relatedalso
ClinVar
Risk rs104894571(G;G)
Alt rs104894571(G;G)
Reference rs104894571(T;T)
Significance Pathogenic
Disease Glycogen storage disease type 1A
Variation info
Gene G6PC
CLNDBN Glycogen storage disease type 1A
Reversed 0
HGVS NC_000017.10:g.41061370T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012790.3,