rs28937321
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 7.7 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukocenphalopathy, type 1 (CADASIL) |
| Make rs28937321(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 15192504 |
| Gene | NOTCH3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28937321 |
| dbSNP (classic) | rs28937321 |
| ClinGen | rs28937321 |
| ebi | rs28937321 |
| HLI | rs28937321 |
| Exac | rs28937321 |
| Gnomad | rs28937321 |
| Varsome | rs28937321 |
| LitVar | rs28937321 |
| Map | rs28937321 |
| PheGenI | rs28937321 |
| Biobank | rs28937321 |
| 1000 genomes | rs28937321 |
| hgdp | rs28937321 |
| ensembl | rs28937321 |
| geneview | rs28937321 |
| scholar | rs28937321 |
| rs28937321 | |
| pharmgkb | rs28937321 |
| gwascentral | rs28937321 |
| openSNP | rs28937321 |
| 23andMe | rs28937321 |
| SNPshot | rs28937321 |
| SNPdbe | rs28937321 |
| MSV3d | rs28937321 |
| GWAS Ctlg | rs28937321 |
| Max Magnitude | 7.7 |
| OMIM | 600276 |
| Desc | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY |
| Variant | 0001 |
| Related | also |
| ClinVar | |
|---|---|
| Risk | rs28937321(T;T) |
| Alt | rs28937321(T;T) |
| Reference | Rs28937321(G;G) |
| Significance | Pathogenic |
| Disease | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy |
| Variation | info |
| Gene | NOTCH3 |
| CLNDBN | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy |
| Reversed | 1 |
| HGVS | NC_000019.9:g.15303315C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009799.4, |
