rs387906514
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs387906514(C;T) |
| Make rs387906514(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 75958692 |
| Gene | TGFB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs387906514 |
| dbSNP (classic) | rs387906514 |
| ClinGen | rs387906514 |
| ebi | rs387906514 |
| HLI | rs387906514 |
| Exac | rs387906514 |
| Gnomad | rs387906514 |
| Varsome | rs387906514 |
| LitVar | rs387906514 |
| Map | rs387906514 |
| PheGenI | rs387906514 |
| Biobank | rs387906514 |
| 1000 genomes | rs387906514 |
| hgdp | rs387906514 |
| ensembl | rs387906514 |
| geneview | rs387906514 |
| scholar | rs387906514 |
| rs387906514 | |
| pharmgkb | rs387906514 |
| gwascentral | rs387906514 |
| openSNP | rs387906514 |
| 23andMe | rs387906514 |
| SNPshot | rs387906514 |
| SNPdbe | rs387906514 |
| MSV3d | rs387906514 |
| GWAS Ctlg | rs387906514 |
| 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 | rs387906514(T;T) |
| Alt | rs387906514(T;T) |
| Reference | Rs387906514(C;C) |
| Significance | Pathogenic |
| Disease | Arrhythmogenic right ventricular dysplasia |
| Variation | info |
| Gene | TGFB3 |
| CLNDBN | Arrhythmogenic right ventricular dysplasia, familial 1 |
| Reversed | 1 |
| HGVS | NC_000014.8:g.76425035G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013293.25, |
