rs138138689
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs138138689(C;T) |
| Make rs138138689(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 11 |
| Position | 17527222 |
| Gene | USH1C |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138138689 |
| dbSNP (classic) | rs138138689 |
| ClinGen | rs138138689 |
| ebi | rs138138689 |
| HLI | rs138138689 |
| Exac | rs138138689 |
| Gnomad | rs138138689 |
| Varsome | rs138138689 |
| LitVar | rs138138689 |
| Map | rs138138689 |
| PheGenI | rs138138689 |
| Biobank | rs138138689 |
| 1000 genomes | rs138138689 |
| hgdp | rs138138689 |
| ensembl | rs138138689 |
| geneview | rs138138689 |
| scholar | rs138138689 |
| rs138138689 | |
| pharmgkb | rs138138689 |
| gwascentral | rs138138689 |
| openSNP | rs138138689 |
| 23andMe | rs138138689 |
| SNPshot | rs138138689 |
| SNPdbe | rs138138689 |
| MSV3d | rs138138689 |
| GWAS Ctlg | rs138138689 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs138138689(A;A) rs138138689(G;G) rs138138689(T;T) |
| Alt | rs138138689(A;A) rs138138689(G;G) rs138138689(T;T) |
| Reference | Rs138138689(C;C) |
| Significance | Pathogenic |
| Disease | Usher syndrome Deafness |
| Variation | info |
| Gene | USH1C |
| CLNDBN | Usher syndrome, type 1C Deafness, autosomal recessive 18 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.17548769C>T |
| CLNSRC | |
| CLNACC | RCV000411458.1, RCV000412131.1, |
