rs28939068
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | |
| (A;T) | 5 | |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 23635330 |
| Gene | CST3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28939068 |
| dbSNP (classic) | rs28939068 |
| ClinGen | rs28939068 |
| ebi | rs28939068 |
| HLI | rs28939068 |
| Exac | rs28939068 |
| Gnomad | rs28939068 |
| Varsome | rs28939068 |
| LitVar | rs28939068 |
| Map | rs28939068 |
| PheGenI | rs28939068 |
| Biobank | rs28939068 |
| 1000 genomes | rs28939068 |
| hgdp | rs28939068 |
| ensembl | rs28939068 |
| geneview | rs28939068 |
| scholar | rs28939068 |
| rs28939068 | |
| pharmgkb | rs28939068 |
| gwascentral | rs28939068 |
| openSNP | rs28939068 |
| 23andMe | rs28939068 |
| SNPshot | rs28939068 |
| SNPdbe | rs28939068 |
| MSV3d | rs28939068 |
| GWAS Ctlg | rs28939068 |
| Max Magnitude | 5 |
Cystatin C L68Q founder mutation for Icelandic hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disease with high penetrance, manifest by brain hemorrhages in young normotensive adults. This snp has now been studied extensively.
full text available from plos
| ClinVar | |
|---|---|
| Risk | Rs28939068(A;A) |
| Alt | Rs28939068(A;A) |
| Reference | Rs28939068(T;T) |
| Significance | Pathogenic |
| Disease | Hereditary cerebral amyloid angiopathy |
| Variation | info |
| Gene | CST3 |
| CLNDBN | Hereditary cerebral amyloid angiopathy, Icelandic type |
| Reversed | 1 |
| HGVS | NC_000020.10:g.23615967A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005988.2, |
