rs765462548
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs765462548(C;T) |
| Make rs765462548(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 10 |
| Position | 103898989 |
| Gene | OBFC1, STN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs765462548 |
| dbSNP (classic) | rs765462548 |
| ClinGen | rs765462548 |
| ebi | rs765462548 |
| HLI | rs765462548 |
| Exac | rs765462548 |
| Gnomad | rs765462548 |
| Varsome | rs765462548 |
| LitVar | rs765462548 |
| Map | rs765462548 |
| PheGenI | rs765462548 |
| Biobank | rs765462548 |
| 1000 genomes | rs765462548 |
| hgdp | rs765462548 |
| ensembl | rs765462548 |
| geneview | rs765462548 |
| scholar | rs765462548 |
| rs765462548 | |
| pharmgkb | rs765462548 |
| gwascentral | rs765462548 |
| openSNP | rs765462548 |
| 23andMe | rs765462548 |
| SNPshot | rs765462548 |
| SNPdbe | rs765462548 |
| MSV3d | rs765462548 |
| GWAS Ctlg | rs765462548 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs765462548(A;A) rs765462548(T;T) |
| Alt | rs765462548(A;A) rs765462548(T;T) |
| Reference | Rs765462548(C;C) |
| Significance | Pathogenic |
| Disease | Cerebroretinal microangiopathy with calcifications and cysts 2 |
| Variation | info |
| Gene | OBFC1 |
| CLNDBN | Cerebroretinal microangiopathy with calcifications and cysts 2 |
| Reversed | 0 |
| HGVS | NC_000010.10:g.105658747C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000417070.1, |
