rs376689763
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs376689763(C;T) |
| Make rs376689763(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 90753705 |
| Gene | ADGRV1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs376689763 |
| dbSNP (classic) | rs376689763 |
| ClinGen | rs376689763 |
| ebi | rs376689763 |
| HLI | rs376689763 |
| Exac | rs376689763 |
| Gnomad | rs376689763 |
| Varsome | rs376689763 |
| LitVar | rs376689763 |
| Map | rs376689763 |
| PheGenI | rs376689763 |
| Biobank | rs376689763 |
| 1000 genomes | rs376689763 |
| hgdp | rs376689763 |
| ensembl | rs376689763 |
| geneview | rs376689763 |
| scholar | rs376689763 |
| rs376689763 | |
| pharmgkb | rs376689763 |
| gwascentral | rs376689763 |
| openSNP | rs376689763 |
| 23andMe | rs376689763 |
| SNPshot | rs376689763 |
| SNPdbe | rs376689763 |
| MSV3d | rs376689763 |
| GWAS Ctlg | rs376689763 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs376689763(G;G) rs376689763(T;T) |
| Alt | rs376689763(G;G) rs376689763(T;T) |
| Reference | Rs376689763(C;C) |
| Significance | Pathogenic |
| Disease | Usher syndrome not specified |
| Variation | info |
| Gene | GPR98 ADGRV1 |
| CLNDBN | Usher syndrome, type 2C not specified |
| Reversed | 0 |
| HGVS | NC_000005.9:g.90049522C>G; NC_000005.9:g.90049522C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000039510.2, RCV000343323.1, |
