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rs104894569

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894569(A;A)
Make rs104894569(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42909407
GeneG6PC
is asnp
is mentioned by
dbSNPrs104894569
ebirs104894569
HLIrs104894569
Exacrs104894569
Varsomers104894569
Maprs104894569
PheGenIrs104894569
hapmaprs104894569
1000 genomesrs104894569
hgdprs104894569
ensemblrs104894569
gopubmedrs104894569
geneviewrs104894569
scholarrs104894569
googlers104894569
pharmgkbrs104894569
gwascentralrs104894569
openSNPrs104894569
23andMers104894569
23andMe allrs104894569
SNP Nexus

SNPshotrs104894569
SNPdbers104894569
MSV3drs104894569
GWAS Ctlgrs104894569
Max Magnitude0
OMIM232200
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894569(A;A)
Alt rs104894569(A;A)
Reference rs104894569(G;G)
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.41061424G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012787.3,