rs767058690
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs767058690(G;G) |
| Make rs767058690(G;T) |
| Make rs767058690(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 22 |
| Position | 50720865 |
| Gene | SHANK3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs767058690 |
| dbSNP (classic) | rs767058690 |
| ClinGen | rs767058690 |
| ebi | rs767058690 |
| HLI | rs767058690 |
| Exac | rs767058690 |
| Gnomad | rs767058690 |
| Varsome | rs767058690 |
| LitVar | rs767058690 |
| Map | rs767058690 |
| PheGenI | rs767058690 |
| Biobank | rs767058690 |
| 1000 genomes | rs767058690 |
| hgdp | rs767058690 |
| ensembl | rs767058690 |
| geneview | rs767058690 |
| scholar | rs767058690 |
| rs767058690 | |
| pharmgkb | rs767058690 |
| gwascentral | rs767058690 |
| openSNP | rs767058690 |
| 23andMe | rs767058690 |
| SNPshot | rs767058690 |
| SNPdbe | rs767058690 |
| MSV3d | rs767058690 |
| GWAS Ctlg | rs767058690 |
| Max Magnitude | 0 |
rs767058690, also known as c.3032G>T, p.Gly1011Val and G1011V, represents a rare mutation in the SHANK3 gene on chromosome 22.
The minor allele of this SNP has been reported as associated with either autism or the closely related Phelan-McDermid syndrome.[PMID 25188300
]
