rs752298579
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs752298579(A;A) |
| Make rs752298579(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 22 |
| Position | 20061538 |
| Gene | TANGO2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs752298579 |
| dbSNP (classic) | rs752298579 |
| ClinGen | rs752298579 |
| ebi | rs752298579 |
| HLI | rs752298579 |
| Exac | rs752298579 |
| Gnomad | rs752298579 |
| Varsome | rs752298579 |
| LitVar | rs752298579 |
| Map | rs752298579 |
| PheGenI | rs752298579 |
| Biobank | rs752298579 |
| 1000 genomes | rs752298579 |
| hgdp | rs752298579 |
| ensembl | rs752298579 |
| geneview | rs752298579 |
| scholar | rs752298579 |
| rs752298579 | |
| pharmgkb | rs752298579 |
| gwascentral | rs752298579 |
| openSNP | rs752298579 |
| 23andMe | rs752298579 |
| SNPshot | rs752298579 |
| SNPdbe | rs752298579 |
| MSV3d | rs752298579 |
| GWAS Ctlg | rs752298579 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs752298579(A;A) |
| Alt | rs752298579(A;A) |
| Reference | Rs752298579(G;G) |
| Significance | Pathogenic |
| Disease | Acute rhabdomyolysis Cardiac arrhythmia Episodic flaccid weakness Intellectual functioning disability Seizures Metabolic encephalomyopathic crises |
| Variation | info |
| Gene | TANGO2 |
| CLNDBN | Acute rhabdomyolysis Cardiac arrhythmia Episodic flaccid weakness Intellectual functioning disability Seizures Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration |
| Reversed | 0 |
| HGVS | NC_000022.10:g.20049061G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000210033.1, RCV000210337.2, |
