rs145146218
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs145146218(C;T) |
| Make rs145146218(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 16 |
| Position | 56831918 |
| Gene | NUP93 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs145146218 |
| dbSNP (classic) | rs145146218 |
| ClinGen | rs145146218 |
| ebi | rs145146218 |
| HLI | rs145146218 |
| Exac | rs145146218 |
| Gnomad | rs145146218 |
| Varsome | rs145146218 |
| LitVar | rs145146218 |
| Map | rs145146218 |
| PheGenI | rs145146218 |
| Biobank | rs145146218 |
| 1000 genomes | rs145146218 |
| hgdp | rs145146218 |
| ensembl | rs145146218 |
| geneview | rs145146218 |
| scholar | rs145146218 |
| rs145146218 | |
| pharmgkb | rs145146218 |
| gwascentral | rs145146218 |
| openSNP | rs145146218 |
| 23andMe | rs145146218 |
| SNPshot | rs145146218 |
| SNPdbe | rs145146218 |
| MSV3d | rs145146218 |
| GWAS Ctlg | rs145146218 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs145146218(T;T) |
| Alt | rs145146218(T;T) |
| Reference | Rs145146218(C;C) |
| Significance | Pathogenic |
| Disease | Nephrotic syndrome |
| Variation | info |
| Gene | NUP93 |
| CLNDBN | Nephrotic syndrome, type 12 |
| Reversed | 0 |
| HGVS | NC_000016.9:g.56865830C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000210641.1, |
