rs2289681
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2289681(C;T) |
| Make rs2289681(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 44911720 |
| Gene | GFAP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2289681 |
| dbSNP (classic) | rs2289681 |
| ClinGen | rs2289681 |
| ebi | rs2289681 |
| HLI | rs2289681 |
| Exac | rs2289681 |
| Gnomad | rs2289681 |
| Varsome | rs2289681 |
| LitVar | rs2289681 |
| Map | rs2289681 |
| PheGenI | rs2289681 |
| Biobank | rs2289681 |
| 1000 genomes | rs2289681 |
| hgdp | rs2289681 |
| ensembl | rs2289681 |
| geneview | rs2289681 |
| scholar | rs2289681 |
| rs2289681 | |
| pharmgkb | rs2289681 |
| gwascentral | rs2289681 |
| openSNP | rs2289681 |
| 23andMe | rs2289681 |
| SNPshot | rs2289681 |
| SNPdbe | rs2289681 |
| MSV3d | rs2289681 |
| GWAS Ctlg | rs2289681 |
| GMAF | 0.1423 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
Mentioned in a 23andMe discussion on intelligence.
Synonymous Polymorphisms at Splicing Regulatory Sites are Associated with CpGs in Neurodegenerative Disease-Related Genes.[PMID 20077034]
| ClinVar | |
|---|---|
| Risk | rs2289681(T;T) |
| Alt | rs2289681(T;T) |
| Reference | Rs2289681(C;C) |
| Significance | Non-pathogenic |
| Disease | not provided Alexander's disease |
| Variation | info |
| Gene | GFAP |
| CLNDBN | not provided Alexander's disease |
| Reversed | 0 |
| HGVS | NC_000017.10:g.42989088C>T |
| CLNSRC | ClinVar Epithelial Biology |
| CLNACC | RCV000056912.1, RCV000277156.1, |
