rs397704721
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (TGCC;TGCC) | 0 | common in clinvar |
| Make rs397704721(-;-) |
| Make rs397704721(-;TGCC) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 36104569 |
| Gene | WDR62 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397704721 |
| dbSNP (classic) | rs397704721 |
| ClinGen | rs397704721 |
| ebi | rs397704721 |
| HLI | rs397704721 |
| Exac | rs397704721 |
| Gnomad | rs397704721 |
| Varsome | rs397704721 |
| LitVar | rs397704721 |
| Map | rs397704721 |
| PheGenI | rs397704721 |
| Biobank | rs397704721 |
| 1000 genomes | rs397704721 |
| hgdp | rs397704721 |
| ensembl | rs397704721 |
| geneview | rs397704721 |
| scholar | rs397704721 |
| rs397704721 | |
| pharmgkb | rs397704721 |
| gwascentral | rs397704721 |
| openSNP | rs397704721 |
| 23andMe | rs397704721 |
| SNPshot | rs397704721 |
| SNPdbe | rs397704721 |
| MSV3d | rs397704721 |
| GWAS Ctlg | rs397704721 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397704721(-;-) |
| Alt | rs397704721(-;-) |
| Reference | Rs397704721(TGCC;TGCC) |
| Significance | Pathogenic |
| Disease | Primary autosomal recessive microcephaly 2 |
| Variation | info |
| Gene | WDR62 |
| CLNDBN | Primary autosomal recessive microcephaly 2 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.36595471_36595474delTGCC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000057.4, |
