rs28937319
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs28937319(C;T) |
| Make rs28937319(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38562485 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28937319 |
| dbSNP (classic) | rs28937319 |
| ClinGen | rs28937319 |
| ebi | rs28937319 |
| HLI | rs28937319 |
| Exac | rs28937319 |
| Gnomad | rs28937319 |
| Varsome | rs28937319 |
| LitVar | rs28937319 |
| Map | rs28937319 |
| PheGenI | rs28937319 |
| Biobank | rs28937319 |
| 1000 genomes | rs28937319 |
| hgdp | rs28937319 |
| ensembl | rs28937319 |
| geneview | rs28937319 |
| scholar | rs28937319 |
| rs28937319 | |
| pharmgkb | rs28937319 |
| gwascentral | rs28937319 |
| openSNP | rs28937319 |
| 23andMe | rs28937319 |
| SNPshot | rs28937319 |
| SNPdbe | rs28937319 |
| MSV3d | rs28937319 |
| GWAS Ctlg | rs28937319 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28937319(T;T) |
| Alt | rs28937319(T;T) |
| Reference | Rs28937319(C;C) |
| Significance | Pathogenic |
| Disease | Sick sinus syndrome 1 Sick sinus syndrome |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Sick sinus syndrome 1, autosomal recessive Sick sinus syndrome |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38603976G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009994.4, RCV000058612.3, |
[PMID 14523039
] Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).
[PMID 20384651] Mutation-specific effects of polymorphism H558R in SCN5A-related sick sinus syndrome.
[PMID 20448214] Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome.
[PMID 20539757] Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.
