rs886041157
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs886041157(T;T) |
| Chromosome | 7 |
| Position | 45063927 |
| Gene | CCM2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886041157 |
| dbSNP (classic) | rs886041157 |
| ClinGen | rs886041157 |
| ebi | rs886041157 |
| HLI | rs886041157 |
| Exac | rs886041157 |
| Gnomad | rs886041157 |
| Varsome | rs886041157 |
| LitVar | rs886041157 |
| Map | rs886041157 |
| PheGenI | rs886041157 |
| Biobank | rs886041157 |
| 1000 genomes | rs886041157 |
| hgdp | rs886041157 |
| ensembl | rs886041157 |
| geneview | rs886041157 |
| scholar | rs886041157 |
| rs886041157 | |
| pharmgkb | rs886041157 |
| gwascentral | rs886041157 |
| openSNP | rs886041157 |
| 23andMe | rs886041157 |
| SNPshot | rs886041157 |
| SNPdbe | rs886041157 |
| MSV3d | rs886041157 |
| GWAS Ctlg | rs886041157 |
| Max Magnitude | 0 |
aka c.214C>T (p.Gln72Ter)
| ClinVar | |
|---|---|
| Risk | rs886041157(T;T) |
| Alt | rs886041157(T;T) |
| Reference | Rs886041157(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | CCM2 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.45103526C>T |
| CLNSRC | |
| CLNACC | RCV000399152.1, |
