rs40305
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs40305(C;T) |
| Make rs40305(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 3 |
| Position | 123692742 |
| Gene | LOC105369194, MYLK, MYLK-AS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs40305 |
| dbSNP (classic) | rs40305 |
| ClinGen | rs40305 |
| ebi | rs40305 |
| HLI | rs40305 |
| Exac | rs40305 |
| Gnomad | rs40305 |
| Varsome | rs40305 |
| LitVar | rs40305 |
| Map | rs40305 |
| PheGenI | rs40305 |
| Biobank | rs40305 |
| 1000 genomes | rs40305 |
| hgdp | rs40305 |
| ensembl | rs40305 |
| geneview | rs40305 |
| scholar | rs40305 |
| rs40305 | |
| pharmgkb | rs40305 |
| gwascentral | rs40305 |
| openSNP | rs40305 |
| 23andMe | rs40305 |
| SNPshot | rs40305 |
| SNPdbe | rs40305 |
| MSV3d | rs40305 |
| GWAS Ctlg | rs40305 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 26586960
] ROCK2 and MYLK variants under hypobaric hypoxic environment of high altitude associate with high altitude pulmonary edema and adaptation
| ClinVar | |
|---|---|
| Risk | rs40305(T;T) |
| Alt | rs40305(T;T) |
| Reference | Rs40305(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Thoracic aortic aneurysm and aortic dissection |
| Variation | info |
| Gene | MYLK-AS2 MYLK LOC101927028 |
| CLNDBN | not specified Thoracic aortic aneurysm and aortic dissection |
| Reversed | 1 |
| HGVS | NC_000003.11:g.123411589G>A |
| CLNSRC | |
| CLNACC | RCV000218051.3, RCV000324555.1, |
