rs267607185
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of an infantile nephronophthisis mutation |
| Make rs267607185(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 100292976 |
| Gene | INVS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267607185 |
| dbSNP (classic) | rs267607185 |
| ClinGen | rs267607185 |
| ebi | rs267607185 |
| HLI | rs267607185 |
| Exac | rs267607185 |
| Gnomad | rs267607185 |
| Varsome | rs267607185 |
| LitVar | rs267607185 |
| Map | rs267607185 |
| PheGenI | rs267607185 |
| Biobank | rs267607185 |
| 1000 genomes | rs267607185 |
| hgdp | rs267607185 |
| ensembl | rs267607185 |
| geneview | rs267607185 |
| scholar | rs267607185 |
| rs267607185 | |
| pharmgkb | rs267607185 |
| gwascentral | rs267607185 |
| openSNP | rs267607185 |
| 23andMe | rs267607185 |
| SNPshot | rs267607185 |
| SNPdbe | rs267607185 |
| MSV3d | rs267607185 |
| GWAS Ctlg | rs267607185 |
| Max Magnitude | 3 |
aka c.2719C>T (p.Arg907Ter or R907X)
| ClinVar | |
|---|---|
| Risk | rs267607185(A;A) rs267607185(G;G) rs267607185(T;T) |
| Alt | rs267607185(A;A) rs267607185(G;G) rs267607185(T;T) |
| Reference | Rs267607185(C;C) |
| Significance | Pathogenic |
| Disease | Infantile nephronophthisis |
| Variation | info |
| Gene | INVS |
| CLNDBN | Infantile nephronophthisis |
| Reversed | 0 |
| HGVS | NC_000009.11:g.103055258C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012739.23, |
