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rs104894567

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894567(A;A)
Make rs104894567(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42904028
GeneG6PC
is asnp
is mentioned by
dbSNPrs104894567
ebirs104894567
HLIrs104894567
Exacrs104894567
Varsomers104894567
Maprs104894567
PheGenIrs104894567
hapmaprs104894567
1000 genomesrs104894567
hgdprs104894567
ensemblrs104894567
gopubmedrs104894567
geneviewrs104894567
scholarrs104894567
googlers104894567
pharmgkbrs104894567
gwascentralrs104894567
openSNPrs104894567
23andMers104894567
23andMe allrs104894567
SNP Nexus

SNPshotrs104894567
SNPdbers104894567
MSV3drs104894567
GWAS Ctlgrs104894567
Max Magnitude0
OMIM232200
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894567(A;A)
Alt rs104894567(A;A)
Reference rs104894567(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.41056045G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012785.3,