rs28936675
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | |
| (G;G) | 0 | common in clinvar |
| Make rs28936675(A;A) |
| Make rs28936675(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 155812032 |
| Gene | SHH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28936675 |
| dbSNP (classic) | rs28936675 |
| ClinGen | rs28936675 |
| ebi | rs28936675 |
| HLI | rs28936675 |
| Exac | rs28936675 |
| Gnomad | rs28936675 |
| Varsome | rs28936675 |
| LitVar | rs28936675 |
| Map | rs28936675 |
| PheGenI | rs28936675 |
| Biobank | rs28936675 |
| 1000 genomes | rs28936675 |
| hgdp | rs28936675 |
| ensembl | rs28936675 |
| geneview | rs28936675 |
| scholar | rs28936675 |
| rs28936675 | |
| pharmgkb | rs28936675 |
| gwascentral | rs28936675 |
| openSNP | rs28936675 |
| 23andMe | rs28936675 |
| SNPshot | rs28936675 |
| SNPdbe | rs28936675 |
| MSV3d | rs28936675 |
| GWAS Ctlg | rs28936675 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28936675(A;A) |
| Alt | rs28936675(A;A) |
| Reference | Rs28936675(G;G) |
| Significance | Pathogenic |
| Disease | Holoprosencephaly 3 |
| Variation | info |
| Gene | SHH |
| CLNDBN | Holoprosencephaly 3 |
| Reversed | 1 |
| HGVS | NC_000007.13:g.155604726C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009427.2, |
