rs587778806
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs587778806(A;A) |
| Make rs587778806(A;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 7 |
| Position | 155803581 |
| Gene | SHH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587778806 |
| dbSNP (classic) | rs587778806 |
| ClinGen | rs587778806 |
| ebi | rs587778806 |
| HLI | rs587778806 |
| Exac | rs587778806 |
| Gnomad | rs587778806 |
| Varsome | rs587778806 |
| LitVar | rs587778806 |
| Map | rs587778806 |
| PheGenI | rs587778806 |
| Biobank | rs587778806 |
| 1000 genomes | rs587778806 |
| hgdp | rs587778806 |
| ensembl | rs587778806 |
| geneview | rs587778806 |
| scholar | rs587778806 |
| rs587778806 | |
| pharmgkb | rs587778806 |
| gwascentral | rs587778806 |
| openSNP | rs587778806 |
| 23andMe | rs587778806 |
| SNPshot | rs587778806 |
| SNPdbe | rs587778806 |
| MSV3d | rs587778806 |
| GWAS Ctlg | rs587778806 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs587778806(A;A) |
| Alt | rs587778806(A;A) |
| Reference | Rs587778806(C;C) |
| Significance | Pathogenic |
| Disease | Holoprosencephaly 3 |
| Variation | info |
| Gene | SHH |
| CLNDBN | Holoprosencephaly 3 |
| Reversed | 1 |
| HGVS | NC_000007.13:g.155596275G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000056137.1, |
