rs551521196
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs551521196(A;A) |
| Make rs551521196(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 22 |
| Position | 23767535 |
| Gene | CHCHD10, LOC107985577 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs551521196 |
| dbSNP (classic) | rs551521196 |
| ClinGen | rs551521196 |
| ebi | rs551521196 |
| HLI | rs551521196 |
| Exac | rs551521196 |
| Gnomad | rs551521196 |
| Varsome | rs551521196 |
| LitVar | rs551521196 |
| Map | rs551521196 |
| PheGenI | rs551521196 |
| Biobank | rs551521196 |
| 1000 genomes | rs551521196 |
| hgdp | rs551521196 |
| ensembl | rs551521196 |
| geneview | rs551521196 |
| scholar | rs551521196 |
| rs551521196 | |
| pharmgkb | rs551521196 |
| gwascentral | rs551521196 |
| openSNP | rs551521196 |
| 23andMe | rs551521196 |
| SNPshot | rs551521196 |
| SNPdbe | rs551521196 |
| MSV3d | rs551521196 |
| GWAS Ctlg | rs551521196 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs551521196(A;A) |
| Alt | rs551521196(A;A) |
| Reference | Rs551521196(G;G) |
| Significance | Pathogenic |
| Disease | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 not specified |
| Variation | info |
| Gene | CHCHD10 |
| CLNDBN | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 not specified |
| Reversed | 0 |
| HGVS | NC_000022.10:g.24109722G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000192231.1, RCV000429342.1, |
