rs35594137
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs35594137(A;A) |
| Make rs35594137(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 147773393 |
| Gene | GJA5, LOC102723321 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35594137 |
| dbSNP (classic) | rs35594137 |
| ClinGen | rs35594137 |
| ebi | rs35594137 |
| HLI | rs35594137 |
| Exac | rs35594137 |
| Gnomad | rs35594137 |
| Varsome | rs35594137 |
| LitVar | rs35594137 |
| Map | rs35594137 |
| PheGenI | rs35594137 |
| Biobank | rs35594137 |
| 1000 genomes | rs35594137 |
| hgdp | rs35594137 |
| ensembl | rs35594137 |
| geneview | rs35594137 |
| scholar | rs35594137 |
| rs35594137 | |
| pharmgkb | rs35594137 |
| gwascentral | rs35594137 |
| openSNP | rs35594137 |
| 23andMe | rs35594137 |
| SNPshot | rs35594137 |
| SNPdbe | rs35594137 |
| MSV3d | rs35594137 |
| GWAS Ctlg | rs35594137 |
| GMAF | 0.2218 |
| Max Magnitude | 0 |
[PMID 21076161
] A Common Connexin-40 Gene Promoter Variant Affects Connexin-40 Expression in Human Atria and Is Associated with Atrial Fibrillation
[PMID 25992486] Two polymorphisms in the Cx40 promoter are associated with hypertension and left ventricular hypertrophy preferentially in men
| ClinVar | |
|---|---|
| Risk | rs35594137(A;A) |
| Alt | rs35594137(A;A) |
| Reference | Rs35594137(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Familial atrial fibrillation |
| Variation | info |
| Gene | GJA5 |
| CLNDBN | Familial atrial fibrillation |
| Reversed | 1 |
| HGVS | NC_000001.10:g.147245497C>T |
| CLNSRC | |
| CLNACC | RCV000316019.1, |
[PMID 31270966] The research of ion channel-related gene polymorphisms with atrial fibrillation in the Chinese Han population.
