rs104893941
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs104893941(C;T) |
| Make rs104893941(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 179836445 |
| Gene | SQSTM1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104893941 |
| dbSNP (classic) | rs104893941 |
| ClinGen | rs104893941 |
| ebi | rs104893941 |
| HLI | rs104893941 |
| Exac | rs104893941 |
| Gnomad | rs104893941 |
| Varsome | rs104893941 |
| LitVar | rs104893941 |
| Map | rs104893941 |
| PheGenI | rs104893941 |
| Biobank | rs104893941 |
| 1000 genomes | rs104893941 |
| hgdp | rs104893941 |
| ensembl | rs104893941 |
| geneview | rs104893941 |
| scholar | rs104893941 |
| rs104893941 | |
| pharmgkb | rs104893941 |
| gwascentral | rs104893941 |
| openSNP | rs104893941 |
| 23andMe | rs104893941 |
| SNPshot | rs104893941 |
| SNPdbe | rs104893941 |
| MSV3d | rs104893941 |
| GWAS Ctlg | rs104893941 |
| GMAF | 0.004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104893941(T;T) |
| Alt | rs104893941(T;T) |
| Reference | Rs104893941(C;C) |
| Significance | Other |
| Disease | Paget disease of bone Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Paget disease of bone not provided |
| Variation | info |
| Gene | C5orf45 SQSTM1 |
| CLNDBN | Paget disease of bone, familial Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Paget disease of bone not provided |
| Reversed | 0 |
| HGVS | NC_000005.9:g.179263445C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000008576.5, RCV000184063.3, RCV000318664.1, RCV000477939.1, RCV000490214.1, |
