rs375072557
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs375072557(A;A) |
| Make rs375072557(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 9 |
| Position | 123371419 |
| Gene | CRB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs375072557 |
| dbSNP (classic) | rs375072557 |
| ClinGen | rs375072557 |
| ebi | rs375072557 |
| HLI | rs375072557 |
| Exac | rs375072557 |
| Gnomad | rs375072557 |
| Varsome | rs375072557 |
| LitVar | rs375072557 |
| Map | rs375072557 |
| PheGenI | rs375072557 |
| Biobank | rs375072557 |
| 1000 genomes | rs375072557 |
| hgdp | rs375072557 |
| ensembl | rs375072557 |
| geneview | rs375072557 |
| scholar | rs375072557 |
| rs375072557 | |
| pharmgkb | rs375072557 |
| gwascentral | rs375072557 |
| openSNP | rs375072557 |
| 23andMe | rs375072557 |
| SNPshot | rs375072557 |
| SNPdbe | rs375072557 |
| MSV3d | rs375072557 |
| GWAS Ctlg | rs375072557 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs375072557(A;A) |
| Alt | rs375072557(A;A) |
| Reference | Rs375072557(G;G) |
| Significance | Pathogenic |
| Disease | Ventriculomegaly with cystic kidney disease |
| Variation | info |
| Gene | CRB2 |
| CLNDBN | Ventriculomegaly with cystic kidney disease |
| Reversed | 0 |
| HGVS | NC_000009.11:g.126133698G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000157659.3, |
