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rs104894568

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894568(A;A)
Make rs104894568(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42907552
GeneG6PC
is asnp
is mentioned by
dbSNPrs104894568
ebirs104894568
HLIrs104894568
Exacrs104894568
Varsomers104894568
Maprs104894568
PheGenIrs104894568
hapmaprs104894568
1000 genomesrs104894568
hgdprs104894568
ensemblrs104894568
gopubmedrs104894568
geneviewrs104894568
scholarrs104894568
googlers104894568
pharmgkbrs104894568
gwascentralrs104894568
openSNPrs104894568
23andMers104894568
23andMe allrs104894568
SNP Nexus

SNPshotrs104894568
SNPdbers104894568
MSV3drs104894568
GWAS Ctlgrs104894568
Max Magnitude0
OMIM232200
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894568(A;A)
Alt rs104894568(A;A)
Reference rs104894568(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.41059569G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012786.3,