rs756199349
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs756199349(G;T) |
| Make rs756199349(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 7 |
| Position | 143332483 |
| Gene | CLCN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs756199349 |
| dbSNP (classic) | rs756199349 |
| ClinGen | rs756199349 |
| ebi | rs756199349 |
| HLI | rs756199349 |
| Exac | rs756199349 |
| Gnomad | rs756199349 |
| Varsome | rs756199349 |
| LitVar | rs756199349 |
| Map | rs756199349 |
| PheGenI | rs756199349 |
| Biobank | rs756199349 |
| 1000 genomes | rs756199349 |
| hgdp | rs756199349 |
| ensembl | rs756199349 |
| geneview | rs756199349 |
| scholar | rs756199349 |
| rs756199349 | |
| pharmgkb | rs756199349 |
| gwascentral | rs756199349 |
| openSNP | rs756199349 |
| 23andMe | rs756199349 |
| SNPshot | rs756199349 |
| SNPdbe | rs756199349 |
| MSV3d | rs756199349 |
| GWAS Ctlg | rs756199349 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs756199349(T;T) |
| Alt | rs756199349(T;T) |
| Reference | Rs756199349(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | CLCN1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.143029576G>T |
| CLNSRC | |
| CLNACC | RCV000494058.1, |
