rs5742912
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs5742912(C;C) |
| Make rs5742912(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6349184 |
| Gene | LOC107984500, SCNN1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5742912 |
| dbSNP (classic) | rs5742912 |
| ClinGen | rs5742912 |
| ebi | rs5742912 |
| HLI | rs5742912 |
| Exac | rs5742912 |
| Gnomad | rs5742912 |
| Varsome | rs5742912 |
| LitVar | rs5742912 |
| Map | rs5742912 |
| PheGenI | rs5742912 |
| Biobank | rs5742912 |
| 1000 genomes | rs5742912 |
| hgdp | rs5742912 |
| ensembl | rs5742912 |
| geneview | rs5742912 |
| scholar | rs5742912 |
| rs5742912 | |
| pharmgkb | rs5742912 |
| gwascentral | rs5742912 |
| openSNP | rs5742912 |
| 23andMe | rs5742912 |
| SNPshot | rs5742912 |
| SNPdbe | rs5742912 |
| MSV3d | rs5742912 |
| GWAS Ctlg | rs5742912 |
| GMAF | 0.01194 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19619703
] Association of genetic variants with the metabolic syndrome in 20,806 white women: The women's health genome study
| ClinVar | |
|---|---|
| Risk | rs5742912(C;C) |
| Alt | rs5742912(C;C) |
| Reference | Rs5742912(T;T) |
| Significance | Other |
| Disease | Bronchiectasis with or without elevated sweat chloride 2 not specified Pseudohypoaldosteronism Cystic Fibrosis-Like Syndrome |
| Variation | info |
| Gene | SCNN1A |
| CLNDBN | Bronchiectasis with or without elevated sweat chloride 2 not specified Pseudohypoaldosteronism, Type I, Recessive Cystic Fibrosis-Like Syndrome |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6458350A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009851.2, RCV000173721.3, RCV000264087.1, RCV000321590.1, |
[PMID 18513389] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19559392] A candidate gene association study of 77 polymorphisms in migraine.
