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
