rs2229611
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs2229611(C;C) |
Make rs2229611(C;T) |
Chromosome | 17 |
Position | 42911449 |
Gene | G6PC |
is a | snp |
is | mentioned by |
dbSNP | rs2229611 |
dbSNP (classic) | rs2229611 |
ClinGen | rs2229611 |
ebi | rs2229611 |
HLI | rs2229611 |
Exac | rs2229611 |
Gnomad | rs2229611 |
Varsome | rs2229611 |
LitVar | rs2229611 |
Map | rs2229611 |
PheGenI | rs2229611 |
Biobank | rs2229611 |
1000 genomes | rs2229611 |
hgdp | rs2229611 |
ensembl | rs2229611 |
geneview | rs2229611 |
scholar | rs2229611 |
rs2229611 | |
pharmgkb | rs2229611 |
gwascentral | rs2229611 |
openSNP | rs2229611 |
23andMe | rs2229611 |
SNPshot | rs2229611 |
SNPdbe | rs2229611 |
MSV3d | rs2229611 |
GWAS Ctlg | rs2229611 |
Max Magnitude | 0 |
? | (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, |
Categories:
- Is a snp
- In dbSNP
- SNPs on chromosome 17
- Has genotype
- Has population
- On chip 23andMe v1
- On chip 23andMe v2
- On chip 23andMe v3
- On chip 23andMe v4
- On chip Affy GenomeWide 6
- On chip Ancestry v2
- On chip FTDNA2
- On chip FTDNA
- On chip HumanOmni1Quad
- On chip Illumina Human 1M
- On chip 23andMe v5
- On chip Ancestry v2c
- On chip Ancestry v2d