rs770828281
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs770828281(C;T) |
| Make rs770828281(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 14 |
| Position | 75980923 |
| Gene | TGFB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs770828281 |
| dbSNP (classic) | rs770828281 |
| ClinGen | rs770828281 |
| ebi | rs770828281 |
| HLI | rs770828281 |
| Exac | rs770828281 |
| Gnomad | rs770828281 |
| Varsome | rs770828281 |
| LitVar | rs770828281 |
| Map | rs770828281 |
| PheGenI | rs770828281 |
| Biobank | rs770828281 |
| 1000 genomes | rs770828281 |
| hgdp | rs770828281 |
| ensembl | rs770828281 |
| geneview | rs770828281 |
| scholar | rs770828281 |
| rs770828281 | |
| pharmgkb | rs770828281 |
| gwascentral | rs770828281 |
| openSNP | rs770828281 |
| 23andMe | rs770828281 |
| SNPshot | rs770828281 |
| SNPdbe | rs770828281 |
| MSV3d | rs770828281 |
| GWAS Ctlg | rs770828281 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs770828281(T;T) |
| Alt | rs770828281(T;T) |
| Reference | Rs770828281(C;C) |
| Significance | Pathogenic |
| Disease | Arrhythmogenic right ventricular dysplasia |
| Variation | info |
| Gene | TGFB3 |
| CLNDBN | Arrhythmogenic right ventricular dysplasia, familial 1 |
| Reversed | 0 |
| HGVS | NC_000014.8:g.76447266C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013292.24, |
