rs755549444
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs755549444(C;T) |
| Make rs755549444(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 100292766 |
| Gene | INVS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs755549444 |
| dbSNP (classic) | rs755549444 |
| ClinGen | rs755549444 |
| ebi | rs755549444 |
| HLI | rs755549444 |
| Exac | rs755549444 |
| Gnomad | rs755549444 |
| Varsome | rs755549444 |
| LitVar | rs755549444 |
| Map | rs755549444 |
| PheGenI | rs755549444 |
| Biobank | rs755549444 |
| 1000 genomes | rs755549444 |
| hgdp | rs755549444 |
| ensembl | rs755549444 |
| geneview | rs755549444 |
| scholar | rs755549444 |
| rs755549444 | |
| pharmgkb | rs755549444 |
| gwascentral | rs755549444 |
| openSNP | rs755549444 |
| 23andMe | rs755549444 |
| SNPshot | rs755549444 |
| SNPdbe | rs755549444 |
| MSV3d | rs755549444 |
| GWAS Ctlg | rs755549444 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs755549444(T;T) |
| Alt | rs755549444(T;T) |
| Reference | Rs755549444(C;C) |
| Significance | Pathogenic |
| Disease | Infantile nephronophthisis |
| Variation | info |
| Gene | INVS |
| CLNDBN | Infantile nephronophthisis |
| Reversed | 0 |
| HGVS | NC_000009.11:g.103055048C>T |
| CLNSRC | |
| CLNACC | RCV000174768.1, |
