rs9616915
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs9616915(C;C) |
| Make rs9616915(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 50679152 |
| Gene | SHANK3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9616915 |
| dbSNP (classic) | rs9616915 |
| ClinGen | rs9616915 |
| ebi | rs9616915 |
| HLI | rs9616915 |
| Exac | rs9616915 |
| Gnomad | rs9616915 |
| Varsome | rs9616915 |
| LitVar | rs9616915 |
| Map | rs9616915 |
| PheGenI | rs9616915 |
| Biobank | rs9616915 |
| 1000 genomes | rs9616915 |
| hgdp | rs9616915 |
| ensembl | rs9616915 |
| geneview | rs9616915 |
| scholar | rs9616915 |
| rs9616915 | |
| pharmgkb | rs9616915 |
| gwascentral | rs9616915 |
| openSNP | rs9616915 |
| 23andMe | rs9616915 |
| SNPshot | rs9616915 |
| SNPdbe | rs9616915 |
| MSV3d | rs9616915 |
| GWAS Ctlg | rs9616915 |
| GMAF | 0.3581 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 24398551] A commonly carried genetic variant, rs9616915, in SHANK3 gene is associated with a reduced risk of autism spectrum disorder: replication in a Chinese population
[PMID 19384346
] Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
[PMID 19566951] Association study of SHANK3 gene polymorphisms with autism in Chinese Han population.
[PMID 27271042] The association of SHANK3 gene polymorphism and autism.
| ClinVar | |
|---|---|
| Risk | rs9616915(C;C) |
| Alt | rs9616915(C;C) |
| Reference | Rs9616915(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | SHANK3 |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000022.10:g.51117580T>C |
| CLNSRC | |
| CLNACC | RCV000454654.1, |
