rs148057999
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs148057999(A;G) |
| Make rs148057999(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 115738253 |
| Gene | CASQ2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148057999 |
| dbSNP (classic) | rs148057999 |
| ClinGen | rs148057999 |
| ebi | rs148057999 |
| HLI | rs148057999 |
| Exac | rs148057999 |
| Gnomad | rs148057999 |
| Varsome | rs148057999 |
| LitVar | rs148057999 |
| Map | rs148057999 |
| PheGenI | rs148057999 |
| Biobank | rs148057999 |
| 1000 genomes | rs148057999 |
| hgdp | rs148057999 |
| ensembl | rs148057999 |
| geneview | rs148057999 |
| scholar | rs148057999 |
| rs148057999 | |
| pharmgkb | rs148057999 |
| gwascentral | rs148057999 |
| openSNP | rs148057999 |
| 23andMe | rs148057999 |
| SNPshot | rs148057999 |
| SNPdbe | rs148057999 |
| MSV3d | rs148057999 |
| GWAS Ctlg | rs148057999 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs148057999(G;G) |
| Alt | rs148057999(G;G) |
| Reference | Rs148057999(A;A) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | CASQ2 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.116280874A>G |
| CLNSRC | |
| CLNACC | RCV000170887.2, |
