rs864321621
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs864321621(A;C) |
| Make rs864321621(C;C) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 18 |
| Position | 70127695 |
| Gene | RTTN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs864321621 |
| dbSNP (classic) | rs864321621 |
| ClinGen | rs864321621 |
| ebi | rs864321621 |
| HLI | rs864321621 |
| Exac | rs864321621 |
| Gnomad | rs864321621 |
| Varsome | rs864321621 |
| LitVar | rs864321621 |
| Map | rs864321621 |
| PheGenI | rs864321621 |
| Biobank | rs864321621 |
| 1000 genomes | rs864321621 |
| hgdp | rs864321621 |
| ensembl | rs864321621 |
| geneview | rs864321621 |
| scholar | rs864321621 |
| rs864321621 | |
| pharmgkb | rs864321621 |
| gwascentral | rs864321621 |
| openSNP | rs864321621 |
| 23andMe | rs864321621 |
| SNPshot | rs864321621 |
| SNPdbe | rs864321621 |
| MSV3d | rs864321621 |
| GWAS Ctlg | rs864321621 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs864321621(C;C) |
| Alt | rs864321621(C;C) |
| Reference | Rs864321621(A;A) |
| Significance | Pathogenic |
| Disease | Congenital microcephaly Microcephaly |
| Variation | info |
| Gene | RTTN |
| CLNDBN | Congenital microcephaly Microcephaly, short stature, and polymicrogyria with or without seizures |
| Reversed | 1 |
| HGVS | NC_000018.9:g.67794931T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000203567.1, RCV000210335.1, |
