rs137854618
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Romano-Ward Long QT Syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs137854618(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38566426 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854618 |
| dbSNP (classic) | rs137854618 |
| ClinGen | rs137854618 |
| ebi | rs137854618 |
| HLI | rs137854618 |
| Exac | rs137854618 |
| Gnomad | rs137854618 |
| Varsome | rs137854618 |
| LitVar | rs137854618 |
| Map | rs137854618 |
| PheGenI | rs137854618 |
| Biobank | rs137854618 |
| 1000 genomes | rs137854618 |
| hgdp | rs137854618 |
| ensembl | rs137854618 |
| geneview | rs137854618 |
| scholar | rs137854618 |
| rs137854618 | |
| pharmgkb | rs137854618 |
| gwascentral | rs137854618 |
| openSNP | rs137854618 |
| 23andMe | rs137854618 |
| SNPshot | rs137854618 |
| SNPdbe | rs137854618 |
| MSV3d | rs137854618 |
| GWAS Ctlg | rs137854618 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs137854618(A;A) rs137854618(T;T) |
| Alt | rs137854618(A;A) rs137854618(T;T) |
| Reference | Rs137854618(G;G) |
| Significance | Pathogenic |
| Disease | not provided Dilated cardiomyopathy 1E Atrial fibrillation Brugada syndrome Atrial standstill 1 |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | not provided Dilated cardiomyopathy 1E Atrial fibrillation, familial, 10 Brugada syndrome Atrial standstill 1, digenic |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38607917C>A; NC_000003.11:g.38607917C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000183046.2, RCV000010003.5, RCV000022946.5, RCV000058604.2, RCV000114992.2, RCV000183045.3, |
[PMID 20384] An enzymatic time/temperature device for monitoring the handling of perishable commodities.
[PMID 12522116] A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.
[PMID 15466643] SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.
[PMID 16684018] SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias.
[PMID 19251209] Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
[PMID 20129283
] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
