rs879253786
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs879253786(A;A) |
| Make rs879253786(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 15 |
| Position | 63734745 |
| Gene | HERC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs879253786 |
| dbSNP (classic) | rs879253786 |
| ClinGen | rs879253786 |
| ebi | rs879253786 |
| HLI | rs879253786 |
| Exac | rs879253786 |
| Gnomad | rs879253786 |
| Varsome | rs879253786 |
| LitVar | rs879253786 |
| Map | rs879253786 |
| PheGenI | rs879253786 |
| Biobank | rs879253786 |
| 1000 genomes | rs879253786 |
| hgdp | rs879253786 |
| ensembl | rs879253786 |
| geneview | rs879253786 |
| scholar | rs879253786 |
| rs879253786 | |
| pharmgkb | rs879253786 |
| gwascentral | rs879253786 |
| openSNP | rs879253786 |
| 23andMe | rs879253786 |
| SNPshot | rs879253786 |
| SNPdbe | rs879253786 |
| MSV3d | rs879253786 |
| GWAS Ctlg | rs879253786 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs879253786(A;A) |
| Alt | rs879253786(A;A) |
| Reference | Rs879253786(G;G) |
| Significance | Pathogenic |
| Disease | Macrocephaly |
| Variation | info |
| Gene | HERC1 |
| CLNDBN | Macrocephaly, dysmorphic facies, and psychomotor retardation |
| Reversed | 1 |
| HGVS | NC_000015.9:g.64026944C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000235009.2, |
