rs34321232
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs34321232(G;G) |
| Make rs34321232(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 15720243 |
| Gene | MYH11, NDE1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34321232 |
| dbSNP (classic) | rs34321232 |
| ClinGen | rs34321232 |
| ebi | rs34321232 |
| HLI | rs34321232 |
| Exac | rs34321232 |
| Gnomad | rs34321232 |
| Varsome | rs34321232 |
| LitVar | rs34321232 |
| Map | rs34321232 |
| PheGenI | rs34321232 |
| Biobank | rs34321232 |
| 1000 genomes | rs34321232 |
| hgdp | rs34321232 |
| ensembl | rs34321232 |
| geneview | rs34321232 |
| scholar | rs34321232 |
| rs34321232 | |
| pharmgkb | rs34321232 |
| gwascentral | rs34321232 |
| openSNP | rs34321232 |
| 23andMe | rs34321232 |
| SNPshot | rs34321232 |
| SNPdbe | rs34321232 |
| MSV3d | rs34321232 |
| GWAS Ctlg | rs34321232 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34321232(G;G) |
| Alt | rs34321232(G;G) |
| Reference | Rs34321232(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Familial aortopathy not specified |
| Variation | info |
| Gene | NDE1 MYH11 |
| CLNDBN | Familial aortopathy not specified |
| Reversed | 0 |
| HGVS | NC_000016.9:g.15814100T>G |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000030300.1, RCV000182562.3, |
[PMID 20226094
] Myosin individualized: single nucleotide polymorphisms in energy transduction.
