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, | 
