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rs104894565

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894565(A;T)
Make rs104894565(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42900989
GeneG6PC
is asnp
is mentioned by
dbSNPrs104894565
ebirs104894565
HLIrs104894565
Exacrs104894565
Varsomers104894565
Maprs104894565
PheGenIrs104894565
hapmaprs104894565
1000 genomesrs104894565
hgdprs104894565
ensemblrs104894565
gopubmedrs104894565
geneviewrs104894565
scholarrs104894565
googlers104894565
pharmgkbrs104894565
gwascentralrs104894565
openSNPrs104894565
23andMers104894565
23andMe allrs104894565
SNP Nexus

SNPshotrs104894565
SNPdbers104894565
MSV3drs104894565
GWAS Ctlgrs104894565
Max Magnitude0
OMIM232200
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894565(T;T)
Alt rs104894565(T;T)
Reference rs104894565(A;A)
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.41053006A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012784.3,