rs200844390
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs200844390(C;T) |
| Make rs200844390(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 100292952 |
| Gene | INVS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200844390 |
| dbSNP (classic) | rs200844390 |
| ClinGen | rs200844390 |
| ebi | rs200844390 |
| HLI | rs200844390 |
| Exac | rs200844390 |
| Gnomad | rs200844390 |
| Varsome | rs200844390 |
| LitVar | rs200844390 |
| Map | rs200844390 |
| PheGenI | rs200844390 |
| Biobank | rs200844390 |
| 1000 genomes | rs200844390 |
| hgdp | rs200844390 |
| ensembl | rs200844390 |
| geneview | rs200844390 |
| scholar | rs200844390 |
| rs200844390 | |
| pharmgkb | rs200844390 |
| gwascentral | rs200844390 |
| openSNP | rs200844390 |
| 23andMe | rs200844390 |
| SNPshot | rs200844390 |
| SNPdbe | rs200844390 |
| MSV3d | rs200844390 |
| GWAS Ctlg | rs200844390 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200844390(A;A) rs200844390(T;T) |
| Alt | rs200844390(A;A) rs200844390(T;T) |
| Reference | Rs200844390(C;C) |
| Significance | Pathogenic |
| Disease | Infantile nephronophthisis Nephronophthisis |
| Variation | info |
| Gene | INVS |
| CLNDBN | Infantile nephronophthisis Nephronophthisis |
| Reversed | 0 |
| HGVS | NC_000009.11:g.103055234C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012740.26, RCV000234825.2, |
