rs886041209
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;AAAG) | 5.2 | Cerebral cavernous angioma associated mutation; variable penetrance |
| (AAAG;AAAG) | 0 | common in clinvar |
| Make rs886041209(-;-) |
| Chromosome | 7 |
| Position | 92241101 |
| Gene | KRIT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886041209 |
| dbSNP (classic) | rs886041209 |
| ClinGen | rs886041209 |
| ebi | rs886041209 |
| HLI | rs886041209 |
| Exac | rs886041209 |
| Gnomad | rs886041209 |
| Varsome | rs886041209 |
| LitVar | rs886041209 |
| Map | rs886041209 |
| PheGenI | rs886041209 |
| Biobank | rs886041209 |
| 1000 genomes | rs886041209 |
| hgdp | rs886041209 |
| ensembl | rs886041209 |
| geneview | rs886041209 |
| scholar | rs886041209 |
| rs886041209 | |
| pharmgkb | rs886041209 |
| gwascentral | rs886041209 |
| openSNP | rs886041209 |
| 23andMe | rs886041209 |
| SNPshot | rs886041209 |
| SNPdbe | rs886041209 |
| MSV3d | rs886041209 |
| GWAS Ctlg | rs886041209 |
| Max Magnitude | 5.2 |
aka c.151_154delAAAG (p.Lys51Phefs)
| ClinVar | |
|---|---|
| Risk | rs886041209(-;-) |
| Alt | rs886041209(-;-) |
| Reference | Rs886041209(AAAG;AAAG) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | KRIT1 |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000007.13:g.91870415_91870418delCTTT |
| CLNSRC | |
| CLNACC | RCV000368749.1, |
