rs63750818
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs63750818(A;G) |
| Make rs63750818(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 87240749 |
| Gene | CHMP2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750818 |
| dbSNP (classic) | rs63750818 |
| ClinGen | rs63750818 |
| ebi | rs63750818 |
| HLI | rs63750818 |
| Exac | rs63750818 |
| Gnomad | rs63750818 |
| Varsome | rs63750818 |
| LitVar | rs63750818 |
| Map | rs63750818 |
| PheGenI | rs63750818 |
| Biobank | rs63750818 |
| 1000 genomes | rs63750818 |
| hgdp | rs63750818 |
| ensembl | rs63750818 |
| geneview | rs63750818 |
| scholar | rs63750818 |
| rs63750818 | |
| pharmgkb | rs63750818 |
| gwascentral | rs63750818 |
| openSNP | rs63750818 |
| 23andMe | rs63750818 |
| SNPshot | rs63750818 |
| SNPdbe | rs63750818 |
| MSV3d | rs63750818 |
| GWAS Ctlg | rs63750818 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63750818(G;G) |
| Alt | rs63750818(G;G) |
| Reference | Rs63750818(A;A) |
| Significance | Pathogenic |
| Disease | Frontotemporal Dementia Amyotrophic lateral sclerosis 17 not provided not specified |
| Variation | info |
| Gene | CHMP2B |
| CLNDBN | Frontotemporal Dementia, Chromosome 3-Linked Amyotrophic lateral sclerosis 17 not provided not specified |
| Reversed | 0 |
| HGVS | NC_000003.11:g.87289899A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000020697.4, RCV000029146.3, RCV000084271.1, RCV000478748.1, |
[PMID 16431024] CHMP2B mutations are not a common cause of frontotemporal lobar degeneration.
[PMID 16807408] ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).
[PMID 16941655] CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia.
