rs137854610
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs137854610(A;A) |
| Make rs137854610(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38550895 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854610 |
| dbSNP (classic) | rs137854610 |
| ClinGen | rs137854610 |
| ebi | rs137854610 |
| HLI | rs137854610 |
| Exac | rs137854610 |
| Gnomad | rs137854610 |
| Varsome | rs137854610 |
| LitVar | rs137854610 |
| Map | rs137854610 |
| PheGenI | rs137854610 |
| Biobank | rs137854610 |
| 1000 genomes | rs137854610 |
| hgdp | rs137854610 |
| ensembl | rs137854610 |
| geneview | rs137854610 |
| scholar | rs137854610 |
| rs137854610 | |
| pharmgkb | rs137854610 |
| gwascentral | rs137854610 |
| openSNP | rs137854610 |
| 23andMe | rs137854610 |
| SNPshot | rs137854610 |
| SNPdbe | rs137854610 |
| MSV3d | rs137854610 |
| GWAS Ctlg | rs137854610 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137854610(A;A) |
| Alt | rs137854610(A;A) |
| Reference | Rs137854610(G;G) |
| Significance | Pathogenic |
| Disease | Long QT syndrome 3 Congenital long QT syndrome SUDDEN INFANT DEATH SYNDROME not specified not provided |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Long QT syndrome 3 Congenital long QT syndrome SUDDEN INFANT DEATH SYNDROME not specified not provided |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38592386C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009987.5, RCV000058786.3, RCV000148848.1, RCV000154827.1, RCV000183123.3, |
[PMID 11710892] Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.
[PMID 19716085
] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
