rs749740335
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (TT;TT) | 0 | common in clinvar |
| Make rs749740335(-;-) |
| Make rs749740335(-;TT) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 179552620 |
| Gene | AXDND1, NPHS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs749740335 |
| dbSNP (classic) | rs749740335 |
| ClinGen | rs749740335 |
| ebi | rs749740335 |
| HLI | rs749740335 |
| Exac | rs749740335 |
| Gnomad | rs749740335 |
| Varsome | rs749740335 |
| LitVar | rs749740335 |
| Map | rs749740335 |
| PheGenI | rs749740335 |
| Biobank | rs749740335 |
| 1000 genomes | rs749740335 |
| hgdp | rs749740335 |
| ensembl | rs749740335 |
| geneview | rs749740335 |
| scholar | rs749740335 |
| rs749740335 | |
| pharmgkb | rs749740335 |
| gwascentral | rs749740335 |
| openSNP | rs749740335 |
| 23andMe | rs749740335 |
| SNPshot | rs749740335 |
| SNPdbe | rs749740335 |
| MSV3d | rs749740335 |
| GWAS Ctlg | rs749740335 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs749740335(-;-) |
| Alt | rs749740335(-;-) |
| Reference | Rs749740335(TT;TT) |
| Significance | Probable-Pathogenic |
| Disease | Nephrotic syndrome |
| Variation | info |
| Gene | NPHS2 AXDND1 |
| CLNDBN | Nephrotic syndrome, idiopathic, steroid-resistant |
| Reversed | 0 |
| HGVS | NC_000001.10:g.179521755_179521756delTT |
| CLNSRC | Counsyl |
| CLNACC | RCV000169166.1, |
