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rs2229611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs2229611(C;C)
Make rs2229611(C;T)
Chromosome17
Position42911449
GeneG6PC
is asnp
is mentioned by
dbSNPrs2229611
dbSNP (old)rs2229611
ClinGenrs2229611
ebirs2229611
HLIrs2229611
Exacrs2229611
Gnomadrs2229611
Varsomers2229611
LitVarrs2229611
Maprs2229611
PheGenIrs2229611
Biobankrs2229611
1000 genomesrs2229611
hgdprs2229611
ensemblrs2229611
gopubmedrs2229611
geneviewrs2229611
scholarrs2229611
googlers2229611
pharmgkbrs2229611
gwascentralrs2229611
openSNPrs2229611
23andMers2229611
23andMe allrs2229611
SNPshotrs2229611
SNPdbers2229611
MSV3drs2229611
GWAS Ctlgrs2229611
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[PMID 28502559] 3'-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk.


ClinVar
Risk rs2229611(C;C)
Alt rs2229611(C;C)
Reference Rs2229611(T;T)
Significance Non-pathogenic
Disease not specified Glycogen storage disease
Variation info
Gene G6PC
CLNDBN not specified Glycogen storage disease, type I
Reversed 0
HGVS NC_000017.10:g.41063466T>C
CLNSRC
CLNACC RCV000249250.1, RCV000338206.1,